Clinical and genetic analysis of a pedigree of myotonic dystrophy disease.
- Author:
Yao DING
1
;
Mei-ping DING
;
Hou-min YIN
;
Yi GUO
;
Jin ZHANG
;
Guo-hua ZHAO
;
Jing WANG
;
Zhi-rong LIU
Author Information
- Publication Type:Journal Article
- MeSH: Adult; Base Sequence; Female; Humans; Male; Microsatellite Repeats; genetics; Molecular Sequence Data; Myotonic Dystrophy; genetics; Myotonin-Protein Kinase; Pedigree; Polymerase Chain Reaction; methods; Protein-Serine-Threonine Kinases; genetics
- From: Journal of Zhejiang University. Medical sciences 2008;37(5):494-498
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo investigate the clinical manifestations and to make genetic analysis in a pedigree with myotonic dystrophy disease.
METHODSThe 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.
RESULTSMyotonia 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.
CONCLUSIONThere likely to be new mutants in this DM pedigree and further study is needed.
