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]

   
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
   


Search with keyword(s) Wildcard = *
          


Print this page

Edited by Aldo Campana, April 22, 2014