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Semin Pediatr Neurol. 2012 Dec;19(4):211-8. doi: 10.1016/j.spen.2012.09.008.

Update on the genetics of limb girdle muscular dystrophy.

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Program in Genomics and Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.


Limb girdle muscular dystrophy (LGMD) is a heterogeneous group of genetic disorders characterized by progressive muscle weakness with dystrophic muscle pathology caused by autosomal dominant or recessive gene mutations. Recently, several novel causative gene mutations have been associated with LGMD, due in part to recent scientific advances such as next generation sequencing. Interestingly, some of these novel forms of LGMD are allelic with other muscle diseases such as the dystroglycanopathy subtype of congenital muscular dystrophy. For the clinical diagnosis of LGMD, a comprehensive approach is typically needed, which may include a thorough evaluation by an experienced clinician, serum creatine kinase measurements, genetic testing, and muscle biopsy. On a research basis, the continued discovery of novel LGMD genes will be expedited with the increasing use of next generation sequencing technologies in combination with traditional approaches such as linkage analysis.

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