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Muscular dystrophy, congenital, 1C

*Gene map locus 19q13.3
[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]

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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Edited by Aldo Campana, December 10, 2015