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
Dans Chinois
| 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>
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Pedigree
/
Données de séquences moléculaires
/
Séquence nucléotidique
/
Réaction de polymérisation en chaîne
/
Protein-Serine-Threonine Kinases
/
Répétitions microsatellites
/
Myotonin-protein kinase
/
Génétique
/
Méthodes
/
Dystrophie myotonique
Limites du sujet:
Adulte
/
Femelle
/
Humains
/
Mâle
langue:
Chinois
Texte intégral:
Journal of Zhejiang University. Medical sciences
Année:
2008
Type:
Article
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