Pseudometabolic expression and phenotypic variabil...[Muscle Nerve. 1998]

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1: Muscle Nerve. 1998 Aug;21(8):1078-80. Links

Pseudometabolic expression and phenotypic variability of calpain deficiency in two siblings.

Pénisson-Besnier I, Richard I, Dubas F, Beckmann JS, Fardeau M.

Service de Neurologie A, Hôpital Larrey, CHRU, Angers, France.

Two siblings originating from Reunion Island were affected by a limb-girdle muscular dystrophy (LGMD) type 2A and carried the same two mutations in the calpain gene: 946-1 AG-->AA, affecting a splice site, and S744G. They demonstrated the clinical variability possible with calpain-3 mutations. Onset was around 20 years of age in each of them. The girl's symptoms mimicked a metabolic myopathy, while her brother, at the same age, presented a classical phenotype of LGMD in an advanced functional stage.

PMID: 9655129 [PubMed - indexed for MEDLINE]

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[J Mol Neurosci. 2001]
Calpain 3 gene mutations: genetic and clinico-pathologic findings in limb-girdle muscular dystrophy.
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[Neuromuscul Disord. 2001]
Muscle MRI findings in patients with limb girdle muscular dystrophy with calpain 3 deficiency (LGMD2A) and early contractures.
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[Neuromuscul Disord. 2005]
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J Mol Med. 2001 Jun; 79(5-6):254-61.

[J Mol Med. 2001]
Review[Alterations in functional proteins. Calpaine-3 deficiency]
Rev Neurol. 1999 Jan 16-31; 28(2):158-64.

[Rev Neurol. 1999]
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Cited by 3 PubMed Central articles

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]
Loss of calpain 3 proteolytic activity leads to muscular dystrophy and to apoptosis-associated IkappaBalpha/nuclear factor kappaB pathway perturbation in mice.
Richard I, Roudaut C, Marchand S, Baghdiguian S, Herasse M, Stockholm D, Ono Y, Suel L, Bourg N, Sorimachi H, et al. J Cell Biol. 2000 Dec 25; 151(7):1583-90.

[J Cell Biol. 2000]
Calpainopathy-a survey of mutations and polymorphisms.
Richard I, Roudaut C, Saenz A, Pogue R, Grimbergen JE, Anderson LV, Beley C, Cobo AM, de Diego C, Eymard B, et al. Am J Hum Genet. 1999 Jun; 64(6):1524-40.

[Am J Hum Genet. 1999]

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