Mutations in Czech LGMD2A patients revealed by analysis of calpain3 mRNA and their phenotypic outcome

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

Isabelle Richard, Odile Broux, Valéerie Allamand et al. · Cell · 1995 · 989 citations · Full text

Molecular Physiology, Skeletal Muscle, Genetics +2

Muscle-specific Calpain, p94, Responsible for Limb Girdle Muscular Dystrophy Type 2A, Associates with Connectin through IS2, a p94-specific Sequence

Hiroyuki Sorimachi, Kayoko Kinbara, Sumiko Kimura et al. · Journal of Biological Chemistry · 1995 · 325 citations · Full text

Muscle Function, Calpain Family, P94 Activity +19

Muscle-specific calpain, p94, is degraded by autolysis immediately after translation, resulting in disappearance from muscle

Hiroyuki Sorimachi, Noriko Toyama‐Sorimachi, Takaomi C. Saido et al. · Journal of Biological Chemistry · 1993 · 252 citations · Full text

Calpain Large Subunit, Muscle Function, Cytoskeleton +20

Calpainopathy—A Survey of Mutations and Polymorphisms

Isabelle Richard, Carinne Roudaut, Amets Sáenz et al. · The American Journal of Human Genetics · 1999 · 206 citations · Full text

Genetic Disorder, Genetics, Genetic Epidemiology +5

Secondary calpain3 deficiency in 2q-linked muscular dystrophy

Henna Haravuori, Anna Vihola, Volker Straub et al. · Neurology · 2001 · 173 citations