Expanding the MTM1 mutational spectrum: novel variants including the first multi-exonic duplication and development of a locus-specific database. (Q36809651)

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scientific article published on 12 September 2012

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English	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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scholarly article

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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

4

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12 February 2020

Manuel Melo Pires

5

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12 February 2020

author name string

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

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12 February 2020

5

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12 February 2020

540-549

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12 February 2020

https://scigraph.springernature.com/pub.10.1038/ejhg.2012.201

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Mutations in dynamin 2 cause dominant centronuclear myopathy

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

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

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

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

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

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5 September 2018

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

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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

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

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

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Genotype-phenotype correlations in X-linked myotubular myopathy

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

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

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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

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12 February 2020

release_zls2xeoyfbeehpx4ckpznvnxim

1 reference

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

24 November 2022

based on heuristic

mapped directly with Wikidata item

1 reference

Europe PubMed Central

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12 February 2020

1 reference

Europe PubMed Central

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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