Cardiac pathology exceeds skeletal muscle pathology in two cases of limb‐girdle muscular dystrophy type 2I |
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| Authors: | Marta Margeta MD PhD Anne M Connolly MD Thomas L Winder PhD Alan Pestronk MD Steven A Moore MD PhD |
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| Institution: | 1. Department of Pathology, University of California San Francisco, 513 Parnassus Avenue, HSW‐514, San Francisco, California 94143, USA;2. Department of Neurology, Washington University, St. Louis, Missouri, USA;3. Department of Pathology, University of Iowa, Iowa City, Iowa, USA;4. PreventionGenetics, Marshfield, Wisconsin |
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| Abstract: | 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 α‐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 heart failure that required cardiac transplantation. The dystrophic pathology and impairment of α‐dystroglycan glycosylation were severe in the heart but mild in skeletal muscle, underscoring the lack of correlation between cardiac and skeletal muscle involvement in some LGMD‐2I patients. Muscle Nerve, 2009 |
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| Keywords: | α ‐dystroglycan FKRP glycosylation heart LGMD‐2I pathology |
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