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Mutations In Col6A3 Cause Severe And Mild Phenotypes Of Ullrich Congenital Muscular Dystrophy
(Univ Chicago Press, 2002)
Ullrich congenital muscular dystrophy (UCMD) is an autosomal recessive disorder characterized by generalized muscular weakness, contractures of multiple joints, and distal hyperextensibility. Homozygous and compound ...
Pcr Based Mutation Screening of The Laminin Alpha 2 Chain Gene (Lama2): Application to Prenatal Diagnosis and Search for Founder Effects in Congenital Muscular Dystrophy
(British Med Journal Publ Group, 1998)
Classical congenital muscular dystrophy with merosin deficiency is caused by mutations in the laminin alpha 2 chain gene (LAMA2). Extended sequencing of the introns flanking the 64 LAMA2 exons was carried out and, based ...