(Q36948074)

17 August 2017

1 reference

25 April 2019

Centronuclear (myotubular) myopathy (English)

1 reference

congenital structural myopathy

17 August 2017

1 reference

25 April 2019

Heinz Jungbluth

1

1 reference

17 August 2017

Carina Wallgren-Pettersson

series ordinal

2

1 reference

17 August 2017

Jocelyn Laporte

series ordinal

3

1 reference

17 August 2017

25 September 2008

3 references

Orphanet Journal of Rare Diseases

17 August 2017

13 March 2019

25 April 2019

3 references

17 August 2017

13 March 2019

25 April 2019

3

1 reference

17 August 2017

26

1 reference

Creative Commons Attribution 2.0 Generic

17 August 2017

2 references

13 March 2019

on focus list of Wikimedia project

25 April 2019

copyright status

copyrighted

0 references

ScienceSource

0 references

exact match

https://scigraph.springernature.com/pub.10.1186/1750-1172-3-26

0 references

cites work

Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572588

29 September 2017

Multi-minicore Disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572588

Myofiber size correlates with MTM1 mutation type and outcome in X-linked myotubular myopathy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572588

A novel PtdIns3P and PtdIns(3,5)P2 phosphatase with an inactivating variant in centronuclear myopathy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572588

Myotubularin phosphatases: policing 3-phosphoinositides

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572588

The myotubularin family of lipid phosphatases

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572588

Mutations in dynamin 2 cause dominant centronuclear myopathy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572588

Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572588

Clinical and histologic findings in autosomal centronuclear myopathy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572588

Myotubularin regulates the function of the late endosome through the gram domain-phosphatidylinositol 3,5-bisphosphate interaction

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572588

Production of phosphatidylinositol 5-phosphate by the phosphoinositide 3-phosphatase myotubularin in mammalian cells

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572588

117th ENMC workshop: ventilatory support in congenital neuromuscular disorders -- congenital myopathies, congenital muscular dystrophies, congenital myotonic dystrophy and SMA (II) 4-6 April 2003, Naarden, The Netherlands

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572588

BAR domains as sensors of membrane curvature: the amphiphysin BAR structure

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572588

Membrane association of myotubularin-related protein 2 is mediated by a pleckstrin homology-GRAM domain and a coiled-coil dimerization module

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572588

Expression of myotubularin by an adenoviral vector demonstrates its function as a phosphatidylinositol 3-phosphate [PtdIns(3)P] phosphatase in muscle cell lines: involvement of PtdIns(3)P in insulin-stimulated glucose transport

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572588

Myotubularins, a large disease-associated family of cooperating catalytically active and inactive phosphoinositides phosphatases

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572588

Identification of myotubularin as the lipid phosphatase catalytic subunit associated with the 3-phosphatase adapter protein, 3-PAP

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572588

Targeted disruption of the murine Bin1/Amphiphysin II gene does not disable endocytosis but results in embryonic cardiomyopathy with aberrant myofibril formation.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572588

Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572588

Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572588

Early and severe presentation of X-linked myotubular myopathy in a girl with skewed X-inactivation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572588

The lipid phosphatase myotubularin is essential for skeletal muscle maintenance but not for myogenesis in mice

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572588

Amphiphysin 2 (Bin1) and T-tubule biogenesis in muscle

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572588

Amphiphysin is necessary for organization of the excitation-contraction coupling machinery of muscles, but not for synaptic vesicle endocytosis in Drosophila

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572588

Diagnosis of X-linked myotubular myopathy by detection of myotubularin.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572588

The myotubularin family: from genetic disease to phosphoinositide metabolism

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572588

Myotubularin, a phosphatase deficient in myotubular myopathy, acts on phosphatidylinositol 3-kinase and phosphatidylinositol 3-phosphate pathway

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572588

72nd ENMC International Workshop: myotubular myopathy 1-3 October 1999, Hilversum, The Netherlands

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572588

Myotubularin, a protein tyrosine phosphatase mutated in myotubular myopathy, dephosphorylates the lipid second messenger, phosphatidylinositol 3-phosphate

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572588

Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572588

MTM1 mutations in X-linked myotubular myopathy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572588

Identification of novel mutations in the MTM1 gene causing severe and mild forms of X-linked myotubular myopathy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572588

Germline mosaicism in X-linked myotubular myopathy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572588

Characterization of 34 novel and six known MTM1 gene mutations in 47 unrelated X-linked myotubular myopathy patients

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572588

MTM1 gene mutations in Japanese patients with the severe infantile form of myotubular myopathy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572588

Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572588

Crystal structure of the amphiphysin-2 SH3 domain and its role in the prevention of dynamin ring formation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572588

Extensive germinal mosaicism in a family with X linked myotubular myopathy simulates genetic heterogeneity

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572588

Association of SET domain and myotubularin-related proteins modulates growth control

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572588

Mutations in the MTM1 gene implicated in X-linked myotubular myopathy. ENMC International Consortium on Myotubular Myopathy. European Neuro-Muscular Center

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572588

Characterization of mutations in the myotubularin gene in twenty six patients with X-linked myotubular myopathy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572588

Autosomal dominant centronuclear myopathy: report of a new family with clinical features simulating facioscapulohumeral syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572588

Identification and characterization of a nerve terminal-enriched amphiphysin isoform

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572588

Amphiphysin II (SH3P9; BIN1), a member of the amphiphysin/Rvs family, is concentrated in the cortical cytomatrix of axon initial segments and nodes of ranvier in brain and around T tubules in skeletal muscle

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572588

A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572588

The myotubular myopathies: differential diagnosis of the X linked recessive, autosomal dominant, and autosomal recessive forms and present state of DNA studies

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572588

X linked myotubular myopathy (MTM1) maps between DXS304 and DXS305, closely linked to the DXS455 VNTR and a new, highly informative microsatellite marker (DXS1684)

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572588

Myotubular myopathy in a girl with a deletion at Xq27-q28 and unbalanced X inactivation assigns the MTM1 gene to a 600-kb region.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572588

Centronuclear myopathy: disease entity or a syndrome? Light- and electron-microscopic study of two cases and review of the literature

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572588

Myotubular myopathy. Persistence of fetal muscle in an adolescent boy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572588

Central-core disease and malignant hyperpyrexia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572588

Myopathy and malignant hyperpyrexia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572588

X-linked myotubular myopathy: clinical and pathological findings in a family

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572588

X linked neonatal centronuclear/myotubular myopathy: evidence for linkage to Xq28 DNA marker loci

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572588

A linkage study of a large pedigree with X linked centronuclear myopathy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572588

X linked neonatal myotubular myopathy: one recombination detected with four polymorphic DNA markers from Xq28

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572588

Centronuclear myopathy: clinical, morphological and genetic characters. A review of 288 cases

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572588

X-linked centronuclear myopathy: Mapping the gene to Xq28

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572588

Myotubular myopathy associated with cataract and electrical myotonia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572588

Centronuclear myopathy: possible central nervous system origin

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572588

Crural hypertrophy associated with centronuclear myopathy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572588

Familial centronuclear myopathy associated with 'cardiomyopathy'

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572588

CXorf6 is a causative gene for hypospadias

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572588

A follow-up study of congenital non-progressive myopathies.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572588

Neonatal myotubular myopathy: neuropathy and failure of postnatal maturation of fetal muscle.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572588

X-linked recessive myotubular myopathy: I. Clinical and pathologic findings in a family.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572588

Congenital centronuclear (myotubular) myopathy. A clinical, pathological and genetic study in eight children.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572588

Centronuclear myopathy in black African children--report of 4 cases

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572588

On some myopathies with oculomotor involvement

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572588

Life-threatening congestive heart failure as the presentation of centronuclear myopathy

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572588

Severe neonatal centronuclear myopathy with autosomal dominant inheritance.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572588

Muscle histochemistry in myotubular (centronuclear) myopathy.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572588

Severe neonatal asphyxia due to X-linked centronuclear myopathy

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572588

Centronuclear myopathy heterogeneity: Distinction of clinical types by myosin isoform patterns

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572588

Vimentin and desmin in maturing skeletal muscle and developmental myopathies

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572588

Development of malignant hyperthermia during mitral valve replacement

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572588

“Myotubular myopathy” and “type I fiber atrophy” in a family

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572588

X-linked myotubular myopathy with fatal neonatal asphyxia

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572588

Diagnosis of myotubular myopathy in the oldest known manifesting female carrier: a clinical and genetic study.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572588

Dynamin is required for F-actin assembly and pedestal formation by enteropathogenic Escherichia coli (EPEC).

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572588

Characterization of the muscle involvement in dynamin 2-related centronuclear myopathy.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572588

Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572588

Characterization of MTM1 mutations in 31 Japanese families with myotubular myopathy, including a patient carrying 240 kb deletion in Xq28 without male hypogenitalism

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572588

Magnetic resonance imaging of muscle in congenital myopathies associated with RYR1 mutations

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572588

118th ENMC International Workshop on Advances in Myotubular Myopathy. 26-28 September 2003, Naarden, The Netherlands. (5th Workshop of the International Consortium on Myotubular Myopathy).

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572588

Dynamin 2 binds gamma-tubulin and participates in centrosome cohesion.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572588

X-inactivation patterns in carriers of X-linked myotubular myopathy.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572588

X-linked myotubular myopathy in a female infant caused by a new MTM1 gene mutation

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572588

Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572588

Genotype-phenotype correlations in X-linked myotubular myopathy

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572588

Rapid scanning of myotubularin (MTM1) gene by denaturing high-performance liquid chromatography (DHPLC).

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572588

Characterization of mutations in fifty North American patients with X-linked myotubular myopathy

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572588

Limb girdle and facial weakness in female carriers of X-linked myotubular myopathy mutations

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572588

Medical complications in long-term survivors with X-linked myotubular myopathy.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572588

Deletions in Xq28 in two boys with myotubular myopathy and abnormal genital development define a new contiguous gene syndrome in a 430 kb region.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572588

Respiratory involvement in primary muscle disorders: assessment and management.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572588

Myotubular myopathy: arrest of morphogenesis of myofibres associated with persistence of fetal vimentin and desmin. Four cases compared with fetal and neonatal muscle.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572588

Subtle central and peripheral nervous system abnormalities in a family with centronuclear myopathy and a novel dynamin 2 gene mutation

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572588

Gene expression analyses in X-linked myotubular myopathy

4 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572588

A Novel Mutation (R271X) in the Myotubularin Gene Causes a Severe Miotubular Myopathy

4 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572588

Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset

4 December 2018

1 reference

12 December 2020

A novel mutation in the dynamin 2 gene in a Charcot-Marie-Tooth type 2 patient: clinical and pathological findings

1 reference

12 December 2020

X-linked myotubular myopathy in a family with three adult survivors

1 reference

12 December 2020

[Unusual good prognosis for X-linked myotubular myopathy]

1 reference

12 December 2020

Type I muscle fibre atrophy and central nuclei. A rare familial neuromuscular disease

1 reference

12 December 2020

Centronuclear myopathy with autosomal dominant inheritance

1 reference

12 December 2020

Familial neuromuscular disease with "myotubes"

1 reference

12 December 2020

High Stature in Neonatal Myotubular Myopathy

1 reference

12 December 2020

Congenital nemaline myopathy. A clinical follow-up of twelve patients

1 reference

12 December 2020

Problems in genetic counseling in a family with an "atypical" centronuclear myopathy

1 reference

12 December 2020

Centronuclear myopathy and type-1 hypotrophy without central nuclei. Distinct nosologic entities?

1 reference

12 December 2020

X-linked myotubular myopathy: a linkage study

1 reference

12 December 2020

[Pathological anatomy of the heart in myopathies and infantile muscular atrophies]

1 reference

12 December 2020

Maternal muscle biopsy in X-linked recessive centronuclear (myotubular) myopathy

1 reference

12 December 2020

Centronuclear myopathy--an inherited neuromuscular disorder. A report of 3 cases

1 reference

12 December 2020

Postnatal centralization of muscle fibre nuclei in centronuclear myopathy

1 reference

12 December 2020

X-linked myotubular myopathy: a case report of prenatal and perinatal aspects

1 reference

12 December 2020

Prenatal diagnosis of X-linked centronuclear myopathy by linkage analysis

1 reference

12 December 2020

The prevalence of inherited neuromuscular disease in Northern Ireland

1 reference

12 December 2020

[Late centronuclear myopathy: autosomal dominant form]

1 reference

12 December 2020

Sequential muscle biopsy changes in a case of congenital myopathy

1 reference

12 December 2020

Role of dynamin in the formation of transport vesicles from the trans-Golgi network

1 reference

12 December 2020

Centronuclear myopathy. Histopathological aspects in ten patients with childhood onset

1 reference

12 December 2020

The role of immunocytochemistry in congenital myopathies

1 reference

12 December 2020

A novel mutation in exon b (R259C) of the MTM1 gene is associated with a mild myotubular myopathy. Mutation in brief no. 125. Online

1 reference

12 December 2020

Skewed X-inactivation in a manifesting carrier of X-linked myotubular myopathy and in her non-manifesting carrier mother

1 reference

12 December 2020

Aberrant arrested in maturation neuromuscular junctions in centronuclear myopathy

1 reference

12 December 2020

The gene for X-linked myotubular myopathy is located in an 8 Mb region at the border of Xq27.3 and Xq28

1 reference

12 December 2020

Immunophenotyping of congenital myopathies: disorganization of sarcomeric, cytoskeletal and extracellular matrix proteins

1 reference

12 December 2020

X-linked myotubular myopathy: clinical observations in ten additional cases

1 reference

12 December 2020

Autosomal dominant centronuclear myopathy

1 reference

12 December 2020

[3 examples of fetal genetic neuromuscular disorders which lead to hydramnion]

1 reference

12 December 2020

Report on the 20th ENMC sponsored international workshop: myotubular/centronuclear myopathy

1 reference

12 December 2020

Neuromuscular disorders in childhood: a descriptive epidemiological study from western Sweden

1 reference

12 December 2020

A clinical and genetic study of a manifesting heterozygote with X-linked myotubular myopathy

1 reference

12 December 2020

X-linked myotubular myopathy--a long-term follow-up study

1 reference

12 December 2020

Temporomandibular joint involvement in a patient with centronuclear myopathy

1 reference

12 December 2020

1 reference

12 December 2020

Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene

1 reference

12 December 2020

Two novel mutations in dynamin-2 cause axonal Charcot-Marie-Tooth disease

1 reference

12 December 2020

Familial centronuclear myopathy: a clinical and pathological study

1 reference

12 December 2020

Familial "myotubular" myopathy

1 reference

12 December 2020

Centronuclear myopathy with autosomal dominant inheritance(author's transl)

1 reference

12 December 2020

Familial form of centronuclear myopathy in the adult

1 reference

12 December 2020

Myotubular (centronuclear) (neuro-)myopathy. I. Clinical, genetical and morphological studies

1 reference

12 December 2020

Centronuclear myopathy: extraocular- and limb-muscle findings in an adult

1 reference

12 December 2020

Endurance exercise training in a patient with central core disease

1 reference

12 December 2020

Familial centronuclear myopathy

1 reference

12 December 2020

Cytopathology of an unusual case of centronuclear myopathy. Light- and electron-microscopic investigations

1 reference

12 December 2020

[Myotubular myopathy: clinical, electrophysiological and histological study of a case]

1 reference

12 December 2020

Genuine myotubular myopathy

1 reference

12 December 2020

[Centronuclear myopathy. Complete review of the literature apropos of a case]

1 reference

12 December 2020

Myopathy with pathological features of both centronuclear myopathy and multicore disease

1 reference

12 December 2020

Thin ribs on chest X-ray: a useful sign in the differential diagnosis of the floppy newborn

1 reference

12 December 2020

Foot deformity in myotubular myopathy. Pathology of intrinsic foot musculature

1 reference

12 December 2020

Centronuclear myopathy with special consideration of the adult form

1 reference

12 December 2020

Centronuclear myopathy with unusual clinical picture

1 reference

12 December 2020

X-linked myotubular myopathy: intrafamilial variability and normal muscle biopsy in a heterozygous female

1 reference

12 December 2020

Familial centronuclear myopathy: a clinical and pathological study

1 reference

12 December 2020

Identifiers

DOI

10.1186/1750-1172-3-26

1 reference

Dimensions Publication ID

17 August 2017

0 references

1 reference

17 August 2017

1 reference