Calpainopathy—A Survey of Mutations and Polymorphisms

This publication has 38 references indexed in Scilit:

• A diagnostic fluorescent marker kit for six limb girdle muscular dystrophies
  Neuromuscular Disorders, 1999
• Characterization of Monoclonal Antibodies to Calpain 3 and Protein Expression in Muscle from Patients with Limb-Girdle Muscular Dystrophy Type 2A
  The American Journal of Pathology, 1998
• Pseudometabolic expression and phenotypic variability of calpain deficiency in two siblings
  Muscle & Nerve, 1998
• Calpain-3 Deficiency Causes a Mild Muscular Dystrophy in Childhood
  Neuropediatrics, 1997
• A biochemical, genetic, and clinical survey of autosomal recessive limb girdle muscular dystrophies in Turkey
  Annals of Neurology, 1997
• The Seventh Form of Autosomal Recessive Limb-Girdle Muscular Dystrophy Is Mapped to 17q11-12
  American Journal of Human Genetics, 1997
• Chromosome 15-linked limb-girdle muscular dystrophy: Clinical phenotypes in Reunion Island and French metropolitan communities
  Neuromuscular Disorders, 1996
• How neutral are synonymous codon mutations?
  Nature Genetics, 1995
• Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A
  Cell, 1995
• Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy
  Cell, 1994