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myotilin Mutation Found in Second Pedigree with LGMD1A

Michael A. Hauser, Cecı́lia Conde, Valeria Kowaljow, Guillermo Zeppa, Ana Lía Taratuto, Udana Torian, Jeffery M. Vance, Margaret A. Pericak‐Vance, Marcy C. Speer, Alberto L. Rosa

The American Journal of Human Genetics · 2002 · 104 citations · 27 references

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27

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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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

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Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy

Carlo Minetti, Federica Sotgia, Claudio Bruno et al. · Nature Genetics · 1998 · 586 citations

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Mutations in the Dystrophin-Associated Protein γ-Sarcoglycan in Chromosome 13 Muscular Dystrophy

S. Noguchi, Elizabeth M. McNally, Kamel Ben Othmane et al. · Science · 1995 · 510 citations

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Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy

Steven L. Roberds, France Leturcq, Valérie Allamand et al. · Cell · 1994 · 457 citations

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