Merosin-deficient congenital muscular dystrophy, autosomal recessive (MDC1A, MIM# 156225, LAMA2 gene coding for α2 chain of laminin)
V Allamand, P Guicheney - European Journal of Human Genetics, 2002 - nature.com
V Allamand, P Guicheney
European Journal of Human Genetics, 2002•nature.comCongenital muscular dystrophies (CMDs) are a highly heterogeneous group of
neuromuscular disorders. A subgroup displays a specific deficiency in a protein of the
extracellular matrix, the α2 chain of laminin-2 (merosin). A number of mutations in the gene
encoding this protein have been identified in patients who present with a severe phenotype
and white matter changes.
neuromuscular disorders. A subgroup displays a specific deficiency in a protein of the
extracellular matrix, the α2 chain of laminin-2 (merosin). A number of mutations in the gene
encoding this protein have been identified in patients who present with a severe phenotype
and white matter changes.
Abstract
Congenital muscular dystrophies (CMDs) are a highly heterogeneous group of neuromuscular disorders. A subgroup displays a specific deficiency in a protein of the extracellular matrix, the α2 chain of laminin-2 (merosin). A number of mutations in the gene encoding this protein have been identified in patients who present with a severe phenotype and white matter changes.
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