A clinical and genetic study of a manifesting heterozygote with X-linked myotubular myopathy-Reference-Cited by-同舟云学术

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

Published:2000-02 Issue:2 Volume:10 Page:133-137
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Hammans S.R.,Robinson D.O.,Moutou C.,Kennedy C.R.,Dennis N.R.,Hughes P.J.,Ellison D.W.

Publisher

Elsevier BV

Subject

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

Reference14 articles.

1. 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

2. 20th ENMC workshop: myotubular myopathy;Wallgren-Pettersson;Neuromusc Disord,1994

3. Congenital centronuclear (myotubular) myopathy: a clinical, pathological and genetic study in eight children;Heckmatt;Brain,1985

4. Centronuclear myopathy heterogeneity: distribution of clinical types by myosin isoform patterns;Sawchak;Neurology,1991

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

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