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Multiple independent molecular etiology for limb-girdle muscular dystrophy type 2A patients from various geographical origins.
Richard I,
Brenguier L,
Dinçer P,
Roudaut C,
Bady B,
Burgunder JM,
Chemaly R,
Garcia CA,
Halaby G,
Jackson CE,
Kurnit DM,
Lefranc G,
Legum C,
Loiselet J,
Merlini L,
Nivelon-Chevallier A,
Ollagnon-Roman E,
Restagno G,
Topaloglu H,
Beckmann JS.
URA 1922 CNRS, Généthon, Evry, France.
Limb-girdle muscular dystrophies (LGMDs) are a group of neuromuscular diseases presenting great clinical heterogeneity. Mutations in CANP3, the gene encoding muscle-specific calpain, were used to identify this gene as the genetic site responsible for autosomal recessive LGMD type 2A (LGMD2A; MIM 253600). Analyses of the segregation of markers flanking the LGMD2A locus and a search for CANP3 mutations were performed for 21 LGMD2 pedigrees from various origins. In addition to the 16 mutations described previously, we report 19 novel mutations. These data indicate that muscular dystrophy caused by mutations in CANP3 are found in patients from all countries examined so far and further support the wide heterogeneity of molecular defects in this rare disease.
PMID: 9150160 [PubMed - indexed for MEDLINE]
PMCID: PMC1712426
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Cited by 7 PubMed Central articles
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Mutations of CAPN3 in Korean patients with limb-girdle muscular dystrophy.
Shin JH, Kim HS, Lee CH, Kim CM, Park KH, Kim DS.
J Korean Med Sci. 2007 Jun; 22(3):463-9.
[J Korean Med Sci. 2007]
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Loss of calpain-3 autocatalytic activity in LGMD2A patients with normal protein expression.
Fanin M, Nascimbeni AC, Fulizio L, Trevisan CP, Meznaric-Petrusa M, Angelini C.
Am J Pathol. 2003 Nov; 163(5):1929-36.
[Am J Pathol. 2003]
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Mutations in calpain 3 associated with limb girdle muscular dystrophy: analysis by molecular modeling and by mutation in m-calpain.
Jia Z, Petrounevitch V, Wong A, Moldoveanu T, Davies PL, Elce JS, Beckmann JS.
Biophys J. 2001 Jun; 80(6):2590-6.
[Biophys J. 2001]
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