Article
Localisation of merosin-positive congenital muscular dystrophy to chromosome 4p16.3.
Human genetics - 1 Jul 2005
Sellick G S, Longman C, Brockington M, Mahjneh I, Sagi L, Bushby K, Topaloğlu H, Muntoni F, Houlston R S
Abstract excerpt
The congenital muscular dystrophies (CMD) are a heterogeneous group of autosomal recessive disorders, which present within the first 6 months of life with hypotonia, muscle weakness and contractures, associated with dystrophic changes on skeletal muscle biopsy. We have previously reported a large consanguineous family segregating merosin-positive congenital muscular dystrophy, in which involvement of known CMD...
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