Article
The phenotype of limb-girdle muscular dystrophy type 2I.
Neurology - 22 Apr 2003
Poppe M, Cree L, Bourke J, Eagle M, Anderson L V B, Birchall D, Brockington M, Buddles M, Busby M, Muntoni F, Wills A, Bushby K
Abstract excerpt
BACKGROUND: Mutations in the fukutin-related protein gene FKRP cause limb-girdle muscular dystrophy (LGMD2I) as well as a form of congenital muscular dystrophy (MDC1C). OBJECTIVE: To define the phenotype in LGMD2I. METHODS: The authors assessed 16 patients from 14 families with FKRP gene mutations and LGMD and collected the results of mutation analysis, protein studies, and respiratory and cardiac investigations....
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