(Q43856210)

27 November 2017

title

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

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27 November 2017

Gail E Herman

1

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27 November 2017

Kevin Kopacz

2

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27 November 2017

Wei Zhao

3

1 reference

27 November 2017

Patti L Mills

4

1 reference

27 November 2017

Aida Metzenberg

5

1 reference

27 November 2017

Soma Das

6

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27 November 2017

publication date

1 February 2002

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27 November 2017

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27 November 2017

volume

19

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27 November 2017

issue

2

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27 November 2017

page(s)

114-121

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

27 November 2017

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10033

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10033

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

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.10033

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

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.10033

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10033

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10033

Germline mosaicism in X-linked myotubular myopathy

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.10033

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

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.10033

Genomic organization of a 225-kb region in Xq28 containing the gene for X-linked myotubular myopathy (MTM1) and a related gene (MTMR1)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10033

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10033

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

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.10033

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

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.10033

MTM1 mutations in X-linked myotubular myopathy

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.10033

The myotubularin family: from genetic disease to phosphoinositide metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10033

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10033

The factor IX gene as a model for analysis of human germline mutations: an update

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10033

Confirmation of prenatal diagnosis results of X-linked recessive myotubular myopathy by mutational screening, and description of three new mutations in the MTM1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10033

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10033

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10033

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10033

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10033

FYVE-DSP1, a dual-specificity protein phosphatase containing an FYVE domain

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.10033

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10033

7 January 2021

The skipping of constitutive exons in vivo induced by nonsense mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10033

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10033

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10033

7 January 2021

Identifiers

DOI

10.1002/HUMU.10033

1 reference

27 November 2017

1 reference