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Comment
. 2016 Jan;12(1):6-8.
doi: 10.1038/nrneurol.2015.230. Epub 2015 Dec 16.

Neuromuscular disease. Diagnosis and discovery in limb-girdle muscular dystrophy

Corrado Angelini  1
Affiliations
Comment

Neuromuscular disease. Diagnosis and discovery in limb-girdle muscular dystrophy

Corrado Angelini. Nat Rev Neurol. 2016 Jan.

Abstract

Whole-exome sequencing is a new tool for neuromuscular clinicians, and recent findings show that it improves the diagnosis of limb-girdle muscular dystrophy. The technique has a dual role as a tool for diagnosis and discovery in genetically heterogeneous neuromuscular diseases.

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