Myotilinopathy in a family with late onset myopathy-Reference-Cited by-同舟云学术

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Myotilinopathy in a family with late onset myopathy

Published:2006-07 Issue:7 Volume:16 Page:427-431
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Pénisson-Besnier Isabelle,Talvinen Kati,Dumez Catherine,Vihola Anna,Dubas Frédéric,Fardeau Michel,Hackman Peter,Carpen Olli,Udd Bjarne

Publisher

Elsevier BV

Subject

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

Reference14 articles.

1. Myotilin, a novel sarcomeric protein with two Ig-like domains, is encoded by a candidate gene for limb girdle muscular dystrophy;Salmikangas;Hum Mol Genet,1999

2. The Z-disc proteins myotilin and FATZ interact with each other and are potentially connected to the sarcolemmal membrane via muscle-specific filamins;Gontier;J Cell Sci,2005

3. Actin-organising properties of the muscular dystrophy protein myotilin;von Nandelstadh;Exp Cell Res,2005

4. Myotilin is mutated in limb girdle muscular dystrophy 1A;Hauser;Hum Mol Genet,2000

5. Myotilin mutation found in second pedigree with LGMD1A;Hauser;Am J Hum Genet,2002

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