Early and severe presentation of X-linked myotubular myopathy in a girl with skewed X-inactivation-Reference-Cited by-同舟云学术

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

Published:2003-01 Issue:1 Volume:13 Page:55-59
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Jungbluth H,Sewry C.A,Buj-Bello A,Kristiansen M,Ørstavik K.H,Kelsey A,Manzur A.Y,Mercuri E,Wallgren-Pettersson C,Muntoni F

Publisher

Elsevier BV

Subject

Genetics (clinical),Neurology (clinical),Neurology,Pediatrics, Perinatology and Child Health

Reference28 articles.

1. X-linked myotubular myopathy – a long-term follow-up study;Barth;Eur J Pediatr Neurol,1998

2. Medical complications in long-term survivors with X-linked myotubular myopathy;Herman;J Pediatr,1999

3. Identification of novel mutations in the MTM1 gene causing severe and mild forms of X-linked myotubular myopathy;Buj-Bello;Hum Mutat,1999

4. A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast;Laporte;Nat Genet,1996

5. Myotubularin, a phosphatase deficient in myotubular myopathy, acts on phosphatidylinositol 3-kinase and phosphatidylinositol 3-phosphate pathway;Blondeau;Hum Mol Genet,2000

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1. X-linked myotubular myopathy in a family of two infant siblings: A case report and review;Pediatrics & Neonatology;2024-07

2. Neuromuscular Features in XL-MTM Carriers: A Cross-Sectional Study in an Unselected Cohort;Neurology;2022-10-04

3. Spectrum of Clinical Features in X-Linked Myotubular Myopathy Carriers;Neurology;2021-05-19

4. Clinical and genetic analysis of a case with centronuclear myopathy caused by SPEG gene mutation: a case report and literature review;BMC Pediatrics;2021-04-29

5. Congenital Myopathies and Related Disorders;Muscle Biopsy;2021

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