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

Marta Margeta, Anne M. Connolly, Thomas L. Winder, Alan Pestronk, Steven A. Moore

Research output: Contribution to journalArticle

27 Scopus citations

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.

Original languageEnglish
Pages (from-to)883-889
Number of pages7
JournalMuscle and Nerve
Volume40
Issue number5
DOIs
StatePublished - Nov 1 2009

Keywords

  • FKRP
  • Glycosylation
  • Heart
  • LGMD-2I
  • Pathology
  • α-dystroglycan

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