title: Identification of muscle-specific calpain and beta-sarcoglycan genes in progressive autosomal recessive muscular dystrophies.
abstract: The autosomal recessive forms of limb-girdle muscular dystrophies are encoded by at least five distinct genes. The work performed towards the identification of two of these is summarized in this report. This success illustrates the growing importance of genetics in modern nosology.
authors.affiliation: Généthon/CNRS URA 1992, Evry, France.
authors.forename: J S
authors.initials: JS
authors.lastname: Beckmann
authors.forename: I
authors.initials: I
authors.lastname: Richard
authors.forename: O
authors.initials: O
authors.lastname: Broux
authors.forename: F
authors.initials: F
authors.lastname: Fougerousse
authors.forename: V
authors.initials: V
authors.lastname: Allamand
authors.forename: N
authors.initials: N
authors.lastname: Chiannilkulchai
authors.forename: L E
authors.initials: LE
authors.lastname: Lim
authors.forename: F
authors.initials: F
authors.lastname: Duclos
authors.forename: N
authors.initials: N
authors.lastname: Bourg
authors.forename: L
authors.initials: L
authors.lastname: Brenguier
authors.forename: P
authors.initials: P
authors.lastname: Pasturaud
authors.forename: F
authors.initials: F
authors.lastname: Quétier
authors.forename: C
authors.initials: C
authors.lastname: Roudaut
authors.forename: Y
authors.initials: Y
authors.lastname: Sunada
authors.forename: J
authors.initials: J
authors.lastname: Meyer
authors.forename: P
authors.initials: P
authors.lastname: Dinçer
authors.forename: G
authors.initials: G
authors.lastname: Lefranc
authors.forename: L
authors.initials: L
authors.lastname: Merlini
authors.forename: H
authors.initials: H
authors.lastname: Topaloglu
authors.forename: F M
authors.initials: FM
authors.lastname: Tomé
authors.forename: D
authors.initials: D
authors.lastname: Cohen
authors.forename: C E
authors.initials: CE
authors.lastname: Jackson
authors.forename: K P
authors.initials: KP
authors.lastname: Campbell
authors.forename: M
authors.initials: M
authors.lastname: Fardeau
mesh_terms: D000818:Animals; D002154:Calpain / Q000235:genetics*; D002874:Chromosome Mapping; D002884:Chromosomes, Human, Pair 15; D003001:Cloning, Molecular; D003598:Cytoskeletal Proteins / Q000235:genetics*; D018450:Disease Progression; D049030:Dystroglycans; D005808:Genes, Recessive; D018740:Genetic Heterogeneity; D006801:Humans; D008562:Membrane Glycoproteins / Q000235:genetics*; D051379:Mice; D009132:Muscles / Q000201:enzymology*; D009136:Muscular Dystrophies / Q000235:genetics* / Q000473:pathology; D009928:Organ Specificity
chemical_list: D003598:Cytoskeletal Proteins; C483081:DAG1 protein, human; D008562:Membrane Glycoproteins; D049030:Dystroglycans; D002154:Calpain