REAPPRAISAL OF THE INCIDENCE RATE OF DUCHENNE AND BECKER MUSCULAR-DYSTROPHIES ON THE BASIS OF MOLECULAR DIAGNOSIS

被引:19
作者
MOSTACCIUOLO, ML [1 ]
MIORIN, M [1 ]
PEGORARO, E [1 ]
FANIN, M [1 ]
SCHIAVON, F [1 ]
VITIELLO, L [1 ]
SAAD, FA [1 ]
ANGELINI, C [1 ]
DANIELI, GA [1 ]
机构
[1] UNIV PADUA, DEPT NEUROL, PADUA, ITALY
关键词
DUCHENNE DYSTROPHY; BECKER DYSTROPHY; DYSTROPHIN; EPIDEMIOLOGY;
D O I
10.1159/000110334
中图分类号
R1 [预防医学、卫生学];
学科分类号
1004 ; 120402 ;
摘要
The incidence rates of Duchenne and Becker muscular dystrophies (X-linked recessive) in a given sample of the Italian population were recalculated using the results of DNA and dystrophin analysis. While the incidence rate of Duchenne muscular dystrophy remained unchanged, the new figure for the incidence of Becker muscular dystrophy (7.2 per 100,000 male live births) was much higher than previously reported, since molecular diagnosis revealed additional cryptic cases, but this incidence is still an underestimate.
引用
收藏
页码:326 / 330
页数:5
相关论文
共 18 条
[1]   THE FREQUENCY OF PATIENTS WITH DYSTROPHIN ABNORMALITIES IN A LIMB-GIRDLE PATIENT POPULATION [J].
ARIKAWA, E ;
HOFFMAN, EP ;
KAIDO, M ;
NONAKA, I ;
SUGITA, H ;
ARAHATA, K .
NEUROLOGY, 1991, 41 (09) :1491-1496
[2]   PREVALENCE AND INCIDENCE OF BECKER MUSCULAR-DYSTROPHY [J].
BUSHBY, KMD ;
THAMBYAYAH, M ;
GARDNERMEDWIN, D .
LANCET, 1991, 337 (8748) :1022-1024
[3]  
DANIELI GA, 1984, CURR CLIN PRACT SER, V20
[4]  
Emery A E, 1991, Neuromuscul Disord, V1, P19, DOI 10.1016/0960-8966(91)90039-U
[5]  
FISCHBECK KH, 1991, EXCERPTA MED INT C S, V934, P61
[6]  
GOLF R, 1992, MUSCLE NERVE, V15, P214
[7]   IMPROVED DIAGNOSIS OF BECKER MUSCULAR-DYSTROPHY BY DYSTROPHIN TESTING [J].
HOFFMAN, EP ;
KUNKEL, LM ;
ANGELINI, C ;
CLARKE, A ;
JOHNSON, M ;
HARRIS, JB .
NEUROLOGY, 1989, 39 (08) :1011-1017
[8]   CHARACTERIZATION OF DYSTROPHIN IN MUSCLE-BIOPSY SPECIMENS FROM PATIENTS WITH DUCHENNES OR BECKERS MUSCULAR-DYSTROPHY [J].
HOFFMAN, EP ;
FISCHBECK, KH ;
BROWN, RH ;
JOHNSON, M ;
MEDORI, R ;
LOIKE, JD ;
HARRIS, JB ;
WATERSTON, R ;
BROOKE, M ;
SPECHT, L ;
KUPSKY, W ;
CHAMBERLAIN, J ;
CASKEY, CT ;
SHAPIRO, F ;
KUNKEL, LM .
NEW ENGLAND JOURNAL OF MEDICINE, 1988, 318 (21) :1363-1368
[9]  
KUNKEL LM, 1991, NOBEL SYMP, V80, P51
[10]  
LANG H, 1989, LIHASTAUTIEN KEITTYV