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Clinical and genetic analysis of a pedigree of myotonic dystrophy disease / 浙江大学学报·医学版
Journal of Zhejiang University. Medical sciences ; (6): 494-498, 2008.
Article in Chinese | WPRIM | ID: wpr-310424
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>
Subject(s)
Full text: Available Index: WPRIM (Western Pacific) Main subject: Pedigree / Molecular Sequence Data / Base Sequence / Polymerase Chain Reaction / Protein Serine-Threonine Kinases / Microsatellite Repeats / Myotonin-Protein Kinase / Genetics / Methods / Myotonic Dystrophy Limits: Adult / Female / Humans / Male Language: Chinese Journal: Journal of Zhejiang University. Medical sciences Year: 2008 Type: Article

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Full text: Available Index: WPRIM (Western Pacific) Main subject: Pedigree / Molecular Sequence Data / Base Sequence / Polymerase Chain Reaction / Protein Serine-Threonine Kinases / Microsatellite Repeats / Myotonin-Protein Kinase / Genetics / Methods / Myotonic Dystrophy Limits: Adult / Female / Humans / Male Language: Chinese Journal: Journal of Zhejiang University. Medical sciences Year: 2008 Type: Article