Article
Limb girdle muscular dystrophy type 2I: No correlation between clinical severity, histopathology and glycosylated α-dystroglycan levels in patients homozygous for common FKRP mutation.
Neuromuscular disorders : NMD - 1 Jul 2017
Alhamidi Maisoon, Brox Vigdis, Stensland Eva, Liset Merete, Lindal Sigurd, Nilssen Øivind
Abstract excerpt
Limb girdle muscular dystrophy type 2I (LGMD2I) is a progressive disorder caused by mutations in the FuKutin-Related Protein gene (FKRP). LGMD2I displays clinical heterogeneity with onset of severe symptoms in early childhood to mild calf and thigh hypertrophy in the second or third decade. Patients homozygous for the common FKRP mutation c.826C>A (p.Leu276Ile) show phenotypes within the milder end of the...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.