Abstract
To investigate the clinical manifestations and to make genetic analysis in a pedigree with myotonic dystrophy disease. The proband and available family members were identified by neurological examination. The clinical manifestation of 8 patients (including the proband) was analyzed; the electromyographic data of 5 patients were compared with 6 other family members. Blood samples were obtained from the 7 patients of the family (excepting II6). DM(1) and DM(2) gene were amplified by PCR, tested by agarose electrophoresis, then analyzed by genetic analyzer. Myotonia and muscle weakness were the main manifestations associated with heart block (7/8) and cataract(6/7). Electromyologram showed myopathic abnormalities not only in patients but also in other members of the family (5/6). The CTG repeats in DM1 and CCTG repeats in DM2 were all in normal range. There likely to be new mutants in this DM pedigree and further study is needed.
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Schedule a callMore From: Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences
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