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Article

Anoctamin 5 muscular dystrophy in Denmark: prevalence, genotypes, phenotypes, cardiac findings, and muscle protein expression.

Journal of neurology - 1 Aug 2013

Witting Nanna, Duno Morten, Petri Helle, Krag Thomas, Bundgaard Henning, Kober Lars, Vissing John

Abstract excerpt

Since the initial description in 2010 of anoctamin 5 deficiency as a cause of muscular dystrophy, a handful of papers have described this disease in cases of mixed populations. We report the first large regional study and present data on new aspects of prevalence, muscular and cardiac phenotypic characteristics, and muscle protein expression. All patients in our neuromuscular unit with genetically unclassified,...

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Source

Identifiers

PMID: 23670307
DOI: 10.1007/s00415-013-6934-y

Genes

ANO5
MMD

Provenance

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Related research

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Anoctamin 5 muscular dystrophy in Denmark: prevalence, genotypes, phenotypes, cardiac findings, and muscle protein expression.PMID 23670307Read ↗

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