Striking phenotypic variability in two familial cases of myosin storage myopathy with a MYH7 Leu1793pro mutation-Reference-Cited by-同舟云学术

Striking phenotypic variability in two familial cases of myosin storage myopathy with a MYH7 Leu1793pro mutation

Published:2009-02 Issue:2 Volume:19 Page:163-166
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Uro-Coste Emmanuelle,Arné-Bes Marie-Christine,Pellissier Jean-François,Richard Pascale,Levade Thierry,Heitz François,Figarella-Branger Dominique,Delisle Marie-Bernadette

Publisher

Elsevier BV

Subject

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

Reference10 articles.

1. Hereditary myosin myopathies;Oldfors;Neuromuscul Disord,2007

2. Myosin storage (hyaline body) myopathy: a case report;Shingde;Neuromuscul Disord,2006

3. Myosin storage myopathy: slow skeletal myosin (MYH7) mutation in two isolated cases;Laing;Neurology,2005

4. Novel slow-skeletal myosin (MYH7) mutation in the original myosin storage myopathy kindred;Dye;Neuromuscul Disord,2006

5. Mutations in sarcomere protein genes in left ventricular noncompaction;Klaassen;Circulation,2008

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