Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of -dystroglycan
Open Access
- 9 September 2003
- journal article
- case report
- Published by Oxford University Press (OUP) in Human Molecular Genetics
- Vol. 12 (21), 2853-2861
- https://doi.org/10.1093/hmg/ddg307