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Neuromuscular disease

Diagnosis and discovery in limb-girdle muscular dystrophy

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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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Figure 1: Overlap between the genes causing the limb-girdle muscular dystrophies and congenital muscular dystrophies.

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Authors and Affiliations

  1. IRCCS San Camillo Hospital, Via Alberoni 70, Lido, Venice, 30126, Italy

    Corrado Angelini

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  1. Corrado Angelini
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Correspondence to Corrado Angelini.

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The author declares no competing financial interests.

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Angelini, C. Diagnosis and discovery in limb-girdle muscular dystrophy. Nat Rev Neurol 12, 6–8 (2016). https://doi.org/10.1038/nrneurol.2015.230

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