Characterization of Strength and Function in Ambulatory Adults With GNE Myopathy
نویسندگان
چکیده
منابع مشابه
Characterization of Strength and Function in Ambulatory Adults With GNE Myopathy
OBJECTIVE To characterize the pattern and extent of muscle weakness and impact on physical functioning in adults with GNEM. METHODS Strength and function were assessed in GNEM subjects (n = 47) using hand-held dynamometry, manual muscle testing, upper and lower extremity functional capacity tests, and the GNEM-Functional Activity Scale (GNEM-FAS). RESULTS Profound upper and lower muscle wea...
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Background. Hereditary inclusion body myopathy is caused by biallelic defects in the GNE gene located on chromosome 9p13. It generally affects adults older than 20 years of age. Methods and Results. In this study, we present two Turkish sisters with progressive myopathy and describe a novel mutation in the GNE gene. Both sisters had slightly higher levels of creatine kinase (CK) and muscle weak...
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ژورنال
عنوان ژورنال: Journal of Clinical Neuromuscular Disease
سال: 2017
ISSN: 1522-0443
DOI: 10.1097/cnd.0000000000000181