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Article

Dysferlin mutation analysis in a group of Italian patients with limb-girdle muscular dystrophy and Miyoshi myopathy.

European journal of neurology - 1 Oct 2004

Kawabe K, Goto K, Nishino I, Angelini C, Hayashi Y K

Abstract excerpt

Mutations in the dysferlin gene (DYSF) on chromosome 2p13 cause distinct phenotypes of muscular dystrophy: limb-girdle muscular dystrophy type 2B (LGMD2B), Miyoshi myopathy (MM), and distal anterior compartment myopathy, which are known by the term 'dysferlinopathy'. We performed mutation analyses of DYSF in 14 Italian patients from 10 unrelated families with a deficiency of dysferlin protein below 20% of the...

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Source

Identifiers

PMID: 15469449
DOI: 10.1111/j.1468-1331.2004.00755.x

Genes

DYSF

Provenance

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Dysferlin mutation analysis in a group of Italian patients with limb-girdle muscular dystrophy and Miyoshi myopathy.PMID 15469449Read ↗

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