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Article

Cardiac pathology exceeds skeletal muscle pathology in two cases of limb‐girdle muscular dystrophy type 2I

24 Aug 2009

Abstract excerpt

Limb-girdle muscular dystrophy type 2I (LGMD-2I) is caused by mutations in the fukutin-related protein gene (FKRP) that lead to abnormal glycosylation of alpha-dystroglycan in skeletal muscle. Heart involvement in LGMD-2I is common, but little is known about a underlying cardiac pathology. Herein we describe two patients with LGMD-2I (homozygous FKRP mutation c.826C>A, p.Leu276Ile) who developed severe congestive...

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PMID: 19705481
DOI: 10.1002/mus.21432

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