ANO5-muscular dystrophy: clinical, pathological and molecular findings.

Abstract Text

Anoctamin 5 (ANO5) is a putative intracellular calcium-activated chloride channel. Recessive mutations in ANO5 cause primary skeletal muscle disorders (limb-girdle muscular dystrophy 2L and distal muscular dystrophy), which are phenotypically similar to dysferlinopathy, a muscular dystrophy due to dysferlin-encoding gene (DYSF) mutations.

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2016-09-08 09:24:25

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Citation:- Liewluck T, Winder T, Dimberg T, Crum T, Heppelmann T, Wang T, .ANO5-muscular dystrophy: clinical, pathological and molecular findings. European journal of neurology 2013-Oct;20()1383-9 DOI:10.1111/ene.12191

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Details of Journal

Journal Title - European journal of neurology

ISSN - 1468-1331

Volume - 20

Issue - 10

Publish date - 2013-Oct

Language - eng

Country - England


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