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American Academy of Neurology (AAN), Neurology, 8(60), p. 1341-1344

DOI: 10.1212/01.wnl.0000065886.82930.c5

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

This paper is available in a repository.
This paper is available in a repository.

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Abstract

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.