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- W2102203722 abstract "Congenital muscular dystropies (CMD) are a clinically and genetically heterogeneous group of muscle disorders, with autosomal recessive inheritance. Absence of the laminin α2 chain in the skeletal muscle of patients with classical CMD has permitted the identification of a subgroup, referred to as ‘merosin-deficient CMD or laminin α2 chain deficient CMD’. We first identified a nonsense and a splice site mutation in laminin α2 gene (LAMA2) (Glu1241stop, 4573-2A→T). We report here new mutations: nonsense mutations (Glu210stop, Trp2316stop) and 1- and 2-bp deletions (2418ΔC, 6968ΔTA), which result in truncation of the protein either in the short arm domains or in the C terminal globular domain and complete merosin deficiency. Another subgroup, referred to as ‘partially-deficient in laminin α chain’, has been identified recently, and a LAMA2 missense mutation (Cys996Arg) has been shown to cause this partial deficiency. The laminin α2 chain, together with the β1 and β2 and γ1 chains forms either laminin-2 (α2-β1-γ1) or laminin-4 (α2-β2-γ1). The LAMA2 mutations induc the formation of abnormal laminins which probably dramatically disturb the assembly and stability of the laminin network, one of the major components of the extracellular matrix in skeletal muscle. We report also the first prenatal diagnosis performed by direct mutation analysis." @default.
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- W2102203722 date "1997-05-01" @default.
- W2102203722 modified "2023-10-18" @default.
- W2102203722 title "Genetics of laminin α2 chain (or merosin) deficient congenital muscular dystrophy: from identification of mutations to prenatal diagnosis" @default.
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- W2102203722 doi "https://doi.org/10.1016/s0960-8966(97)00460-4" @default.
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