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Article

Eight new mutations and the expanding phenotype variability in muscular dystrophy caused by ANO5.

Neurology - 20 Mar 2012

Penttilä S, Palmio J, Suominen T, Raheem O, Evilä A, Muelas Gomez N, Tasca G, Waddell L B, Clarke N F, Barboi A, Hackman P, Udd B

Abstract excerpt

OBJECTIVE: Description of 8 new ANO5 mutations and significant expansion of the clinical phenotype spectrum associated with previously known and unknown mutations to improve diagnostic accuracy. METHODS: DNA samples of 101 patients in 95 kindreds at our quaternary referral center in Finland, who had undetermined limb-girdle muscular dystrophy (LGMD), calf distal myopathy, or creatine kinase (CK) elevations of...

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Identifiers

PMID: 22402862
DOI: 10.1212/WNL.0b013e31824c4682

Genes

ANO5

Variants

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