Congenital muscular dystrophy type 1D
Definition:
References:
-
[1]. Cheryl Longman, et al. Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan. Hum Mol Genet. 2003 Nov 1;12(21):2853-61. [Content Brief]
[2]. Nigel F Clarke, et al. Congenital muscular dystrophy type 1D (MDC1D) due to a large intragenic insertion/deletion, involving intron 10 of the LARGE gene. Eur J Hum Genet. 2011 Apr;19(4):452-7. [Content Brief]
Molarity Calculator
Dilution Calculator
