Limb girdle muscular dystrophy type 2I: No correlation between clinical severity, histopathology and glycosylated alpha-dystroglycan levels in patients homozygous for common FKRP mutation

摘要

Limb girdle muscular dystrophy type 21 (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.Leu27611e) show phenotypes within the milder end of the clinical spectrum. However, this group also manifests substantial clinical variability.