Genotype–phenotype correlations in X-linked myotubular myopathy-Reference-Cited by-同舟云学术

Genotype–phenotype correlations in X-linked myotubular myopathy

Published:2002-12 Issue:10 Volume:12 Page:939-946
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

McEntagart Meriel,Parsons Gretchen,Buj-Bello Anna,Biancalana Valérie,Fenton Iain,Little Mark,Krawczak Michael,Thomas Nick,Herman Gail,Clarke Angus,Wallgren-Pettersson Carina

Publisher

Elsevier BV

Subject

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

Reference20 articles.

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2. MTM1 mutations in X-linked myotubular myopathy;Laporte;Hum Mutat,2000

3. 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

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

5. Characterization of 34 novel and six known MTM1 gene mutations in 47 unrelated X-linked myotubular myopathy patients;Tanner;Neuromuscul Disord,1999

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