A heterozygous 21-bp deletion inCAPN3causes dominantly inherited limb girdle muscular dystrophy-Reference-Cited by-同舟云学术

A heterozygous 21-bp deletion inCAPN3causes dominantly inherited limb girdle muscular dystrophy

Published:2016-06-03 Issue:8 Volume:139 Page:2154-2163
ISSN:0006-8950
Container-title:Brain
language:en
Short-container-title:Brain

Author:

Vissing John,Barresi Rita,Witting Nanna,Van Ghelue Marijke,Gammelgaard Lise,Bindoff Laurence A.,Straub Volker,Lochmüller Hanns,Hudson Judith,Wahl Christoph M.,Arnardottir Snjolaug,Dahlbom Kathe,Jonsrud Christoffer,Duno Morten

Publisher

Oxford University Press (OUP)

Subject

Neurology (clinical)

Link

http://academic.oup.com/brain/article-pdf/139/8/2154/17944649/aww133.pdf

Reference36 articles.

1. Heterozygosity for an in-frame deletion causes glutaryl-CoA dehydrogenase deficiency in a patient detected by newborn screening: investigation of the effect of the mutant allele

2. Mutations in Czech LGMD2A patients revealed by analysis of calpain3 mRNA and their phenotypic outcome

3. Identification of putativein vivo substrates of calpain 3 by comparative proteomics of overexpressing transgenic and nontransgenic mice

4. Severe paraspinal muscle involvement in facioscapulohumeral muscular dystrophy

5. Difference in allelic expression of the CLCN1 gene and the possible influence on the myotonia congenita phenotype

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