(Q41527731)

2 October 2017

Sporadic centronuclear myopathy with muscle pseudohypertrophy, neutropenia, and necklace fibers due to a DNM2 mutation (English)

1 reference

2 October 2017

centronuclear myopathy

1 reference

Teerin Liewluck

1

1 reference

2 October 2017

Tracy L Lovell

series ordinal

2

1 reference

2 October 2017

Anna V Bite

series ordinal

3

1 reference

2 October 2017

Andrew G Engel

series ordinal

4

1 reference

2 October 2017

1 December 2010

1 reference

2 October 2017

Neuromuscular Disorders

1 reference

2 October 2017

20

1 reference

2 October 2017

801-804

1 reference

2 October 2017

12

1 reference

Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991611

Centronuclear (myotubular) myopathy

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991611

Membrane traffic and muscle: lessons from human disease

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991611

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991611

A molecular classification of congenital neutropenia syndromes

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991611

Granulocyte colony-stimulating factor and its receptor in normal myeloid cell development, leukemia and related blood cell disorders

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991611

Barth syndrome, a human disorder of cardiolipin metabolism

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991611

Mutations in dynamin 2 cause dominant centronuclear myopathy

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991611

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991611

Clinical and histologic findings in autosomal centronuclear myopathy

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991611

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991611

"Necklace" fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991611

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

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991611

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

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991611

Centronuclear myopathy with unusual clinical picture

2 December 2018

1 reference

12 December 2020

Muscular pseudohypertrophy in an adult case with centronuclear myopathy

1 reference

12 December 2020

Autosomal dominant centronuclear myopathy

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

Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset

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

164th ENMC International workshop: 6th workshop on centronuclear (myotubular) myopathies, 16–18th January 2009, Naarden, The Netherlands

1 reference

12 December 2020

Dynamin 2 mutations associated with human diseases impair clathrin-mediated receptor endocytosis

1 reference

12 December 2020

Centronuclear myopathy with cataracts due to a novel dynamin 2 (DNM2) mutation

1 reference

12 December 2020

10.1016/J.NMD.2010.07.273

Identifiers

DOI

1 reference

2 October 2017

1 reference

2 October 2017

1 reference