Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A
I Richard, O Broux, V Allamand, F Fougerousse… - Cell, 1995 - cell.com
I Richard, O Broux, V Allamand, F Fougerousse, N Chiannilkulchai, N Bourg, L Brenguier…
Cell, 1995•cell.comMutations in the Proteolytic Enzyme Calpain 3 Cause Limb-Girdle Muscular Dystrophy Type
2A Page 1 Cell, Vol. 81, 27-40, April 7, 1995, Copyright © 1995 by Cell Press Mutations in
the Proteolytic Enzyme Calpain 3 Cause Limb-Girdle Muscular Dystrophy Type 2A Isabelle
Richard,* Odile Broux,* Val6rie Allamand,* Frangoise Fougerousse,* Nuchanard
Chiannilkulchai,* Nathalie Bourg,* Lydie Brenguier, * Catherine Devaud,* Patricia
Pasturaud,* Carinne Roudaut,* Dominique Hillaire,* Maria-Rita Passos-Bueno,t Mayana …
2A Page 1 Cell, Vol. 81, 27-40, April 7, 1995, Copyright © 1995 by Cell Press Mutations in
the Proteolytic Enzyme Calpain 3 Cause Limb-Girdle Muscular Dystrophy Type 2A Isabelle
Richard,* Odile Broux,* Val6rie Allamand,* Frangoise Fougerousse,* Nuchanard
Chiannilkulchai,* Nathalie Bourg,* Lydie Brenguier, * Catherine Devaud,* Patricia
Pasturaud,* Carinne Roudaut,* Dominique Hillaire,* Maria-Rita Passos-Bueno,t Mayana …
Summary
Limb-girdle muscular dystrophies (LGMDs) are a group of inherited diseases whose genetic etiology has yet to be elucidated. The autosomal recessive forms (LGMD2) constitute a genetically heterogeneous group with
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