Clinical and genetic analysis of a pedigree of myotonic dystrophy disease / 浙江大学学报·医学版

ABSTRACT

<p><b>OBJECTIVE</b>To investigate the clinical manifestations and to make genetic analysis in a pedigree with myotonic dystrophy disease.</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>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.</p><p><b>CONCLUSION</b>There likely to be new mutants in this DM pedigree and further study is needed.</p>