(Q36809651)

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Expanding the MTM1 mutational spectrum: novel variants including the first multi-exonic duplication and development of a locus-specific database.

scientific article published on 12 September 2012

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Europe PubMed Central

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12 February 2020

Expanding the MTM1 mutational spectrum: novel variants including the first multi-exonic duplication and development of a locus-specific database (English)

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12 February 2020

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12 February 2020

Manuel Melo Pires

5

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12 February 2020

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Jorge Oliveira

1

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12 February 2020

Márcia E Oliveira

2

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12 February 2020

Wolfram Kress

3

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12 February 2020

Pascale Hilbert

6

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12 February 2020

Peter Baxter

7

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12 February 2020

Manuela Santos

8

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12 February 2020

Henk Buermans

9

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12 February 2020

Johan T den Dunnen

10

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12 February 2020

Rosário Santos

11

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12 February 2020

publication date

12 September 2012

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12 February 2020

European Journal of Human Genetics

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12 February 2020

21

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12 February 2020

5

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12 February 2020

540-549

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12 February 2020

Clinical utility gene card for: Centronuclear and myotubular myopathies

1 reference

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29 September 2017

Congenital myopathies: an update

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29 September 2017

Guidelines for establishing locus specific databases.

1 reference

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29 September 2017

LOVD v.2.0: the next generation in gene variant databases

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29 September 2017

Myotubularin controls desmin intermediate filament architecture and mitochondrial dynamics in human and mouse skeletal muscle

1 reference

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29 September 2017

A method and server for predicting damaging missense mutations

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29 September 2017

Centronuclear myopathies: a widening concept

1 reference

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29 September 2017

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29 September 2017

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

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29 September 2017

MAMLD1 (CXorf6): a new gene for hypospadias

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29 September 2017

Centronuclear (myotubular) myopathy

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29 September 2017

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

1 reference

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29 September 2017

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

1 reference

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29 September 2017

Myotubularin phosphatases: policing 3-phosphoinositides

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641378

29 September 2017

Mutations in dynamin 2 cause dominant centronuclear myopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641378

29 September 2017

Repbase Update, a database of eukaryotic repetitive elements

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29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641378

29 September 2017

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

1 reference

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29 September 2017

The human genome browser at UCSC

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29 September 2017

The myotubularin family: from genetic disease to phosphoinositide metabolism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641378

29 September 2017

MTM1 mutations in X-linked myotubular myopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641378

29 September 2017

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641378

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641378

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641378

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641378

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641378

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641378

29 September 2017

Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641378

27 June 2018

A double mutation in a patient with X-linked myotubular myopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641378

27 June 2018

RYR1 mutations are a common cause of congenital myopathies with central nuclei

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641378

5 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641378

5 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641378

5 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641378

5 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641378

5 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641378

5 September 2018

Genotype-phenotype correlations in X-linked myotubular myopathy

1 reference

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5 September 2018

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

1 reference

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5 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641378

5 September 2018

Curating gene variant databases (LSDBs): toward a universal standard

2 references

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20 October 2018

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21 January 2018

Extreme phenotypic variability in a German family with X-linked myotubular myopathy associated with E404K mutation in MTM1

1 reference

https://pubmed.ncbi.nlm.nih.gov/22968136

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/22968136

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

X-linked myotubular myopathy due to a complex rearrangement involving a duplication of MTM1 exon 10

1 reference

https://pubmed.ncbi.nlm.nih.gov/22968136

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/22968136

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/22968136

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/22968136

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1038/EJHG.2012.201

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22968136%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

release_zls2xeoyfbeehpx4ckpznvnxim

1 reference

https://api.fatcat.wiki/v0/release/zls2xeoyfbeehpx4ckpznvnxim

24 November 2022

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mapped directly with Wikidata item

PMC publication ID

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22968136%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

PubMed publication ID

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22968136%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

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