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1: Neurology. 2003 Apr 22;60(8):1341-4.Click here to read Links
Comment in:
Neurology. 2003 Apr 22;60(8):1230-1.

Fukutin-related protein gene mutated in the original kindred limb-girdle MD 2I.

Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry NCNP, Kodaira, Tokyo, Japan. adel@weboris.com

The authors mapped an autosomal recessive form of limb-girdle MD on chromosome 19q13.3 (LGMD2I), further narrowed down the candidate region to 1.1 Mb, and identified one new homozygous mutation in the fukutin-related protein (FKRP) gene on patients of the original Tunisian family. Immunohistochemical and immunoblot analysis showed abnormal expression of alpha-dystroglycan and laminin-alpha2 supporting the hypothesis that FKRP has a role in the interaction between the extracellular matrix components.

PMID: 12707439 [PubMed - indexed for MEDLINE]