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Article

Dysferlin is a Plasma Membrane Protein and is Expressed Early in Human Development

1 May 1999

Abstract excerpt

Recently, a single gene, DYSF, has been identified which is mutated in patients with limb-girdle muscular dystrophy type 2B (LGMD2B) and with Miyoshi myopathy (MM). This is of interest because these diseases have been considered as two distinct clinical conditions since different muscle groups are the initial targets. Dysferlin, the protein product of the gene, is a novel molecule without homology to any known...

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PMID: 10196375
DOI: 10.1093/hmg/8.5.855

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