Homozygous mutations incaveolin-3cause a severe form of rippling muscle disease-Reference-Cited by-同舟云学术

Homozygous mutations incaveolin-3cause a severe form of rippling muscle disease

Published:2003-03-03 Issue:4 Volume:53 Page:512-520
ISSN:0364-5134
Container-title:Annals of Neurology
language:en
Short-container-title:Ann Neurol.

Author:

Kubisch Christian,Schoser Benedikt G. H.,Düring Monika v.,Betz Regina C.,Goebel Hans-Hilmar,Zahn Susanne,Ehrbrecht Antje,Aasly Jan,Schroers Anja,Popovic Nikola,Lochmüller Hanns,Schröder J. Michael,Brüning Thomas,Malin Jean-Pierre,Fricke Britta,Meinck Hans-Michael,Torbergsen Torberg,Engels Hartmut,Voss Bruno,Vorgerd Matthias

Funder

Deutsche Forschungsgemeinschaft

BONFOR

WiMed Bergmannsheil, Bochum

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Reference27 articles.

1. Mutations in Cav3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease;Betz;Nat Genet,2001

2. A sporadic case of rippling muscle disease caused by a de novo caveolin-3 mutation;Vorgerd;Neurology,2001

3. Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy;Minetti;Nat Genet,1998

4. Dissociation of the dystroglycan complex in caveolin-3 deficient limb girdle muscular dystrophy;Herrmann;Hum Mol Genet,2000

5. Mutation in the caveolin-3 gene causes a peculiar form of distal myopathy;Tateyama;Neurology,2002

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