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Title: Mild congenital muscular dystrophy in two patients with an internally deleted laminin α2-chain
Authors: Allamand, V
Sunada, Y
Salih, M.A.M
Straub, V
Ozo, C.O
Al-Turaiki, M.H.S
Akbar, M
Kolo, T
Colognato, H
Zhang, X
Sorokin, L.M
Yurchenco, P.D
Tryggvason, K 
Campbell, K.P
Keywords: dystrophin
alpha chain
Becker muscular dystrophy
case report
controlled study
disease severity
gene deletion
human tissue
muscular dystrophy
preschool child
priority journal
protein domain
RNA splicing
Issue Date: 1997
Publisher: Oxford University Press
Citation: Allamand, V, Sunada, Y, Salih, M.A.M, Straub, V, Ozo, C.O, Al-Turaiki, M.H.S, Akbar, M, Kolo, T, Colognato, H, Zhang, X, Sorokin, L.M, Yurchenco, P.D, Tryggvason, K, Campbell, K.P (1997). Mild congenital muscular dystrophy in two patients with an internally deleted laminin α2-chain. Human Molecular Genetics 6 (5) : 747-752. ScholarBank@NUS Repository.
Rights: Attribution 4.0 International
Abstract: Congenital muscular dystrophy (CMD) is a group of clinically and genetically heterogeneous disorders inherited in an autosomal recessive mode. The α2-chain of laminin-2 (previously called merosin) has been shown by immunohistochemical and genetic analyses to be implicated in the pathogenesis of the 'classic' form of CMD. In the 'merosin-deficient' subgroup, which represents about half of the cases, more definite evidence of the involvement of the laminin α2-chain has recently been reported with the identification of mutations in the gene encoding the α2-chain of laminin 2 (LAMA2) in CMD patients. Here we report on two siblings from a consanguineous family expressing an internally deleted laminin α2-chain as a result of a splice site mutation in the LAMA2 gene which causes the splicing of exon 25. The predicted protein lacks 63 amino acids in domain IVa which forms a globular structure on the short arm of the α2-chain. Interestingly, these patients appear mildly affected compared to others who completely lack this protein. This situation presents a striking analogy with Becker muscular dystrophy, where in-frame deletions in the dystrophin gene result in the expression of a semi-functional protein and lead to a mild phenotype.
Source Title: Human Molecular Genetics
ISSN: 09646906
DOI: 10.1093/hmg/6.5.747
Rights: Attribution 4.0 International
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