Characterization of MTM1 mutations in 31 Japanese families with myotubular myopathy, including a patient carrying 240kb deletion in Xq28 without male hypogenitalism-Reference-Cited by-同舟云学术

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

Published:2005-03 Issue:3 Volume:15 Page:245-252
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Tsai Tzung-Chang,Horinouchi Hideo,Noguchi Satoru,Minami Narihiro,Murayama Kumiko,Hayashi Yukiko K.,Nonaka Ikuya,Nishino Ichizo

Publisher

Elsevier BV

Subject

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

Reference20 articles.

1. Report on the 20th ENMC sponsored international workshop: myotubular/centronuclear myopathy;Wallgren-Pettersson;Neuromuscul Disord,1994

2. The myotubular myopathies: differential diagnosis of the X linked recessive, autosomal dominant, and autosomal recessive forms and present state of DNA studies;Wallgren-Pettersson;J Med Genet,1995

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

4. MTM1 gene mutations in Japanese patients with the severe infantile form of myotubular myopathy;Nishino;Neuromuscul Disord,1998

5. Deletions in Xq28 in two boys with myotubular myopathy and abnormal genital development define a new contiguous gene syndrome in a 430kb region;Hu;Hum Mol Genet,1996

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