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Identification Of A New Locus For A Peculiar Form Of Congenital Muscular Dystrophy With Early Rigidity Of The Spine, On Chromosome 1P35-36
(Univ Chicago Press, 1998)
Classical congenital muscular dystrophies (CMDs) are autosomal recessive neuromuscular disorders characterized by early onset of hypotonia and weakness, atrophy of limbs and trunk muscles, contractures, and dystrophic ...
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 ...