Identification of muscle-specific calpain and beta-sarcoglycan genes in progressive autosomal recessive muscular dystrophies.
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.
Beckmann
J S
JS
Généthon/CNRS URA 1992, Evry, France.
Richard
I
I
Broux
O
O
Fougerousse
F
F
Allamand
V
V
Chiannilkulchai
N
N
Lim
L E
LE
Duclos
F
F
Bourg
N
N
Brenguier
L
L
Pasturaud
P
P
Quétier
F
F
Roudaut
C
C
Sunada
Y
Y
Meyer
J
J
Dinçer
P
P
Lefranc
G
G
Merlini
L
L
Topaloglu
H
H
Tomé
F M
FM
Cohen
D
D
Jackson
C E
CE
Campbell
K P
KP
Fardeau
M
M
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
D003598:Cytoskeletal Proteins; C483081:DAG1 protein, human; D008562:Membrane Glycoproteins; D049030:Dystroglycans; D002154:Calpain