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Article

Copy Number Variants Account for a Tiny Fraction of Undiagnosed Myopathic Patients

26 Oct 2018

Abstract excerpt

Next-generation sequencing (NGS) technologies have led to an increase in the diagnosis of heterogeneous genetic conditions. However, over 50% of patients with a genetically inherited disease are still without a diagnosis. In these cases, different hypotheses are usually postulated, including variants in novel genes or elusive mutations. Although the impact of copy number variants (CNVs) in neuromuscular disorders...

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PMID: 30373198
DOI: 10.3390/genes9110524

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