Nemaline rod myopathy and Charcot-Marie-Tooth disease. Report of a case in a 10-year-old girl.
A 10-year-old girl studied with genetic, clinical, electrodiagnostic, and histopathologic methods showed evidence for both nemaline rod myopathy and Charcot-Marie-Tooth disease. Although Charcot-Marie-Tooth disease was documented in the family, no other members were found to have clinical and electrodiagnostic evidence for a primary myopathy.
D002607:Charcot-Marie-Tooth Disease / Q000150:complications* / Q000235:genetics / Q000473:pathology; D002648:Child; D005260:Female; D006801:Humans; D008475:Median Nerve / Q000503:physiopathology; D009046:Motor Neurons / Q000502:physiology; D009132:Muscles / Q000473:pathology; D009133:Muscular Atrophy / Q000150:complications*; D009431:Neural Conduction; D009468:Neuromuscular Diseases / Q000150:complications* / Q000235:genetics / Q000473:pathology; D010543:Peroneal Nerve / Q000503:physiopathology; D013497:Sural Nerve / Q000473:pathology