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Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies)

Louise V.B. Anderson, Ruth M Harrison, Robert Pogue, Elizabeth Vafiadaki, C. Pollitt, Keith Davison, Jennifer A. Moss, Sharon Keers, Angela Pyle, Pamela J. Shaw,

Neuromuscular Disorders · 2000 · 164 citations · 25 references

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25

Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A

Isabelle Richard, Odile Broux, Valéerie Allamand et al. · Cell · 1995 · 997 citations · Full text

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Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy

Jing Liu, Masashi Aoki, Isabel Illa et al. · Nature Genetics · 1998 · 919 citations

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A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B

Rumaisa Bashir, S. Britton, Tom Strachan et al. · Nature Genetics · 1998 · 683 citations

, , +11

A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness

Shin’ichiro Yasunaga, M’hamed Grati, Martine Cohen‐Salmon et al. · Nature Genetics · 1999 · 585 citations

, , +13

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

Louise V.B. Anderson, Kenneth Davison, Jessica Moss et al. · Human Molecular Genetics · 1999 · 296 citations

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