title: Cardiac pathology exceeds skeletal muscle pathology in two cases of limb-girdle muscular dystrophy type 2I.
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 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 heart failure that required cardiac transplantation. The dystrophic pathology and impairment of alpha-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.
authors.affiliation: Department of Pathology, University of California San Francisco, 513 Parnassus Avenue, HSW-514, San Francisco, California 94143, USA. marta.margeta@ucsf.edu
authors.forename: Marta
authors.initials: M
authors.lastname: Margeta
authors.forename: Anne M
authors.initials: AM
authors.lastname: Connolly
authors.forename: Thomas L
authors.initials: TL
authors.lastname: Winder
authors.forename: Alan
authors.initials: A
authors.lastname: Pestronk
authors.forename: Steven A
authors.initials: SA
authors.lastname: Moore
mesh_terms: D000293:Adolescent; D002648:Child; D005260:Female; D006333:Heart Failure / Q000473:pathology*; D006801:Humans; D008297:Male; D018482:Muscle, Skeletal / Q000473:pathology*; D049288:Muscular Dystrophies, Limb-Girdle / Q000145:classification / Q000473:pathology*
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