CARDIAC PATHOLOGY EXCEEDS SKELETAL MUSCLE PATHOLOGY IN TWO CASES OF LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2I

摘要

Limb-girdle muscular dystrophy type 2I (LGMD-2I) is caused by mutations in 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 underlying cardiac pathology. Here, we describe two patients with LGMD-2I (homozygous FKRP mutation c.826C>A, p.Leu276Ile) who developed severe congestive heart failure requiring cardiac transplantation. The dystrophic pathology and impairment of α-dystroglycan glycosylation were severe in the heart but mild in the skeletal muscle, underscoring the lack of correlation between cardiac and skeletal muscle involvement in some LGMD-2I patients.