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|Type:||Artigo de periódico|
|Title:||Electrophysiological evaluation in myotonic dystrophy - Correlation with CTG length expansion|
|Abstract:||In myotonic dystrophy (MD), disease severity has been correlated with expansion of CTG repeats in chromosome 19. The aims of this study were to evaluate efficacy of electromyography in the diagnosis of MD, access the frequency and the characteristics of peripheral involvement in the disease and to verify whether the CTG repeats correlated with the electrophysiological abnormalities. Twenty-five patients and six relatives at risk of carrying the MD gene were examined. Electrical myotonia (EM) was scored. Sensory and motor conduction velocity (CV) were studied in five nerves. Leukocyte DNA analysis was done in 26 subjects. Myopathy and myotonia were found in 27 cases. EM was most frequent in muscles of hand and in tibialis anterior. No significant correlation was found between EM scores and length of CTG expansions. EM scores correlated significantly with the degree of clinical myopathy, expressed by a muscular disability scale. Peripheral neuropathy was found in eight subjects and was not restricted to those who were diabetics.|
|Editor:||Assoc Arquivos De Neuro- Psiquiatria|
|Citation:||Arquivos De Neuro-psiquiatria. Assoc Arquivos De Neuro- Psiquiatria, v. 59, n. 2A, n. 186, n. 191, 2001.|
|Appears in Collections:||Unicamp - Artigos e Outros Documentos|
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