Published January 1, 2013
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A novel desmin mutation leading to autosomal recessive limb-girdle muscular dystrophy: distinct histopathological outcomes compared with desminopathies
Creators
- 1. Hacettepe Univ, Fac Med, Dept Med Biol, TR-06100 Ankara, Turkey
- 2. Hacettepe Univ, Fac Med, Dept Histol & Embryol, TR-06100 Ankara, Turkey
- 3. Hacettepe Univ, Fac Med, Dept Biophys, TR-06100 Ankara, Turkey
- 4. Hacettepe Univ, Fac Med, Dept Pediat, Pathol Unit, TR-06100 Ankara, Turkey
- 5. Hacettepe Univ, Fac Med, Dept Neurol & Neuromuscular Dis, TR-06100 Ankara, Turkey
- 6. Mayo Clin, Dept Neurol & Neuromuscular Dis, Res Lab, Rochester, MN USA
Description
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 consanguineous family with LGMD2 with two affected individuals in order to identify the causative gene defect.
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