A novel desmin mutation leading to autosomal recessive limb-girdle muscular dystrophy: distinct histopathological outcomes compared with desminopathies.

doi:10.1136/jmedgenet-2012-101487

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A novel desmin mutation leading to autosomal recessive limb-girdle muscular dystrophy: distinct histopathological outcomes compared with desminopathies.

Journal of medical genetics - 1 Jul 2013

Cetin Nilgun, Balci-Hayta Burcu, Gundesli Hulya, Korkusuz Petek, Purali Nuhan, Talim Beril, Tan Ersin, Selcen Duygu, Erdem-Ozdamar Sevim, Dincer Pervin

Abstract excerpt

BACKGROUND: Autosomal recessive limb girdle muscular dystrophy (LGMD2) is a heterogeneous group of myopathies characterised by progressive muscle weakness involving proximal muscles of the shoulder and pelvic girdles including at least 17 different genetic entities. Additional loci have yet to be identified as there are families which are unlinked to any of the known loci. Here we have investigated a...

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A novel desmin mutation leading to autosomal recessive limb-girdle muscular dystrophy: distinct histopathological outcomes compared with desminopathies.

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