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Cardiac pathology exceeds skeletal muscle pathology in two cases of limb-girdle muscular dystrophy type 2I.
- Source :
- Muscle & Nerve; Nov2009, Vol. 40 Issue 5, p883-889, 7p
- Publication Year :
- 2009
-
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 [ABSTRACT FROM AUTHOR]
Details
- Language :
- English
- ISSN :
- 0148639X
- Volume :
- 40
- Issue :
- 5
- Database :
- Complementary Index
- Journal :
- Muscle & Nerve
- Publication Type :
- Academic Journal
- Accession number :
- 71240777
- Full Text :
- https://doi.org/10.1002/mus.21432