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In Vivo Modeling of the Morbid Human Genome using Danio rerio
Published on: August 24, 2013
Fukutin-related protein gene mutated in the original kindred limb-girdle MD 2I
1Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry NCNP, Kodaira, Tokyo, Japan. adel@weboris.com
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.
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