Mutations in the Fukutin-Related Protein Gene (FKRP) Cause a Form of Congenital Muscular Dystrophy with Secondary Laminin a2 Deficiency and Abnormal Glycosylation of a-Dystroglycan
American Journal of Human Genetics
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19q13.3 Google OMIM PubMed [Muscular dystrophy, congenital] Muscular dystrophy, congenital, 1C *Gene map locus 19q13.3 MDC1C [Clinical features: hypotonia; weakness and wasting of the shoulder-girdle muscles; hypertrophy and weakness of the leg muscles, with inability to walk; calf and thigh hypertrophy; respiratory failure] [Inheritance: autosomal recessive] |
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Edited by Aldo Campana,
August 21, 2012
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