Journal
NEUROMUSCULAR DISORDERS
Volume 25, Issue 8, Pages 617-624Publisher
PERGAMON-ELSEVIER SCIENCE LTD
DOI: 10.1016/j.nmd.2015.03.002
Keywords
Muscular dystrophy; Congenital myopathy; Targeted next-generation sequencing; Prospective diagnostic study; Chinese patients' features
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Funding
- Peking Union Medical College Hospital Young Scholars Project [2010120]
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Muscular dystrophies and congenital myopathies are a large group of heterogeneous inherited muscle disorders. The spectrum of muscular dystrophies and congenital myopathies extends to more than 50 diseases today, even excluding the common forms Duchenne Muscular Dystrophy, Myotonic Dystrophy and Facioscapulohumeral Dystrophy. Unfortunately, even by critical clinical evaluation and muscle pathology, diagnosis is still difficult. To potentially remediate this difficulty, we applied a microarray-based targeted next-generation sequencing (NGS) technology to diagnose these patients. There were 55 consecutive unrelated patients who underwent the test, 36 of which (65%) were found to have a causative mutation. Our result shows the accuracy and efficiency of next-generation sequencing in clinical circumstances and reflects the features and relative distribution of inherited myopathies in the Chinese population. (C) 2015 Elsevier B.V. All rights reserved.
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