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.
Artículo
en Chino
| 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>
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Linaje
/
Datos de Secuencia Molecular
/
Secuencia de Bases
/
Reacción en Cadena de la Polimerasa
/
Proteínas Serina-Treonina Quinasas
/
Repeticiones de Microsatélite
/
Proteína Quinasa de Distrofia Miotónica
/
Genética
/
Métodos
/
Distrofia Miotónica
Límite:
Adulto
/
Femenino
/
Humanos
/
Masculino
Idioma:
Chino
Revista:
Journal of Zhejiang University. Medical sciences
Año:
2008
Tipo del documento:
Artículo
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