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Bedside diagnosis of rippling muscle disease in CAV3 p.A46T mutation carriers

Authors :
Erik Stålberg
Franz Rücker
Atle Melberg
Maria Montelius
Jimmy Sundblom
Hannu Kalimo
Inger Nennesmo
Anja Smits
Gunilla Islander
Niklas Dahl
Maria Österdahl
Source :
Muscle & Nerve. 41:751-757
Publication Year :
2010
Publisher :
Wiley, 2010.

Abstract

Thirty-nine members, ages 1 to 67 years, of a Swedish family with rippling muscle disease (RMD) were investigated to assess genotype-phenotype correlations. Clinical, neurophysiological, and muscle ...

Details

ISSN :
0148639X
Volume :
41
Database :
OpenAIRE
Journal :
Muscle & Nerve
Accession number :
edsair.doi...........2f089fc1875b4f18e63f68224f48a3df