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Cardiac pathology exceeds skeletal muscle pathology in two cases of limb‐girdle muscular dystrophy type 2I
Author(s) -
Margeta Marta,
Connolly Anne M.,
Winder Thomas L.,
Pestronk Alan,
Moore Steven A.
Publication year - 2009
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.21432
Subject(s) - limb girdle muscular dystrophy , skeletal muscle , muscular dystrophy , pathology , dystroglycan , medicine , heart failure , cardiomyopathy , cardiac muscle , transplantation , dysferlin , biology , mutation , laminin , genetics , gene , extracellular matrix
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