Journal article
Cardiac pathology exceeds skeletal muscle pathology in two cases of limb-girdle muscular dystrophy type 2I
Muscle & nerve, Vol.40(5), pp.883-889
11/2009
DOI: 10.1002/mus.21432
PMCID: PMC2862182
PMID: 19705481
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.
Details
- Title: Subtitle
- Cardiac pathology exceeds skeletal muscle pathology in two cases of limb-girdle muscular dystrophy type 2I
- Creators
- Marta Margeta - Department of Pathology, University of California San Francisco, 513 Parnassus Avenue, HSW-514, San Francisco, California 94143, USA. marta.margeta@ucsf.eduAnne M ConnollyThomas L WinderAlan PestronkSteven A Moore
- Resource Type
- Journal article
- Publication Details
- Muscle & nerve, Vol.40(5), pp.883-889
- DOI
- 10.1002/mus.21432
- PMID
- 19705481
- PMCID
- PMC2862182
- NLM abbreviation
- Muscle Nerve
- ISSN
- 0148-639X
- eISSN
- 1097-4598
- Publisher
- United States
- Grant note
- NS053672 / NINDS NIH HHS U54 NS053672 / NINDS NIH HHS U54 NS053672-059001 / NINDS NIH HHS
- Language
- English
- Date published
- 11/2009
- Academic Unit
- Pathology
- Record Identifier
- 9984047683602771
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