(Q34162868)

31 July 2017

title

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

1 reference

X-linked myotubular myopathy

31 July 2017

main subject

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10

Muntoni F

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31 July 2017

Jungbluth H

1

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31 July 2017

Sewry CA

2

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31 July 2017

Buj-Bello A

3

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31 July 2017

Kristiansen M

4

1 reference

31 July 2017

Ørstavik KH

5

1 reference

31 July 2017

Kelsey A

6

1 reference

31 July 2017

Manzur AY

7

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31 July 2017

Mercuri E

8

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31 July 2017

Wallgren-Pettersson C

9

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31 July 2017

publication date

1 January 2003

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31 July 2017

published in

Neuromuscular Disorders

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31 July 2017

volume

13

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31 July 2017

issue

1

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31 July 2017

page(s)

55-59

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

31 July 2017

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900194-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900194-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900194-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900194-3

7 January 2021

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

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https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900194-3

7 January 2021

MTM1 mutations in X-linked myotubular myopathy

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https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900194-3

7 January 2021

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

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https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900194-3

7 January 2021

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

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https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900194-3

7 January 2021

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

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https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900194-3

7 January 2021

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

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https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900194-3

7 January 2021

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

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https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900194-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900194-3

7 January 2021

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

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https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900194-3

7 January 2021

X chromosome inactivation in carriers of Barth syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900194-3

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/10.1016%2FS0960-8966%2802%2900194-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900194-3

7 January 2021

Myotubular myopathy: morphological, immunohistochemical and clinical variation.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900194-3

7 January 2021

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

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https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900194-3

7 January 2021

Familial skewed X inactivation and X-linked mutations: unbalanced X inactivation is a powerful means to ascertain X-linked genes that affect cell proliferation

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900194-3

7 January 2021

X Inactivation in Females with X-Linked Disease

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900194-3

7 January 2021

A promoter mutation in the XIST gene in two unrelated families with skewed X-chromosome inactivation

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900194-3

7 January 2021

10.1016/S0960-8966(02)00194-3

Identifiers

DOI

1 reference

31 July 2017

1 reference