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Approaches to genetic diagnosis in neuromuscular conditions in the era of next generation sequencing

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Footnotes

  • TR and MF contributed equally.

  • Contributors HLT clinically examined and photographed the patient, and drafted and wrote the manuscript. HS clinically examined and photographed the patient, and critically revised and approved the final manuscript. TR critically revised and approved the final manuscript. MF clinically examined and photographed the patient, provided clinical and scientific direction for the manuscript, and drafted, reviewed and approved the final manuscript.

  • Funding Motor Neurone Disease Research Institute of Australia.

  • Competing interests None declared.

  • Patient consent Obtained.

  • Ethics approval Human Ethics Committees of South Eastern Sydney Local Health District (HREC/13/POWH/203) Australia.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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