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http://dx.doi.org/10.3345/kjp.2008.51.12.1295

Neuromuscular disorders in children : Diagnosis and treatment  

Chae, Jong Hee (Department of Pediatrics, College of Medicine, Seoul National University)
Publication Information
Clinical and Experimental Pediatrics / v.51, no.12, 2008 , pp. 1295-1299 More about this Journal
Abstract
Inherited muscle diseases are heterogeneous with varying genetic etiologies and present with common symptoms and signs, including weakness, motor developmental delay, and hypotonia. To diagnose these various diseases, a meticulous family and clinical history, physical and neurological examinations, laboratory findings with electromyography, muscle biopsy, and genetic testing are needed. Here, I review several inherited muscle diseases, with a focus on muscular dystrophy in children and its genetics and general management.
Keywords
Muscular dystrophy; Diagnosis; Treatment; Children;
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