𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Genetic epidemiology of duchenne muscular dystrophy in Japan: Classical segregation analysis

✍ Scribed by Masao Kanamori; Newton E. Morton; Keiko Fujiki; Kiyotaro Kondo; D. C. Rao; I. B. Borecki

Publisher
John Wiley and Sons
Year
1987
Tongue
English
Weight
421 KB
Volume
4
Category
Article
ISSN
0741-0395

No coin nor oath required. For personal study only.

✦ Synopsis

Classical segregation analysis was performed on 651 male probands in 597 families with Duchenne muscular dystrophy (DMD) collected from 20 of 25 National Institutions for Muscle Diseases in Japan. The proportion of sporadic cases is compatible with 1/3 expected for an X-linked lethal trait with an equal mutation rate in egg and sperm, the estimated mutation rates being 9.2 X 10(-5) and 10.9 X 10(-5)/gamete/generation, respectively. The incidence and prevalence among males were estimated to be 29.2 X 10(-5) and 6.7 X 10(-5), respectively. These results indicated no difference from the patterns of DMD in Western countries.

πŸ“œ SIMILAR VOLUMES

Prenatal diagnosis of duchenne/becker mu
Prenatal diagnosis of duchenne/becker muscular dystrophy by short tandem repeat segregation analysis in argentine families
✍ Florencia Giliberto; VerΓ³nica Ferreiro; Francisco Massot; Marcela Ferrer; Lilian πŸ“‚ Article πŸ“… 2011 πŸ› John Wiley and Sons 🌐 English βš– 241 KB

## Introduction: Duchenne/becker muscular dystrophies (dmd/bmd) are x-linked recessive diseases caused by mutations in the dystrophin gene. ## Methods: We used multiplex polymerase chain reaction (pcr) and short tandem repeat (str) segregation analysis for dmd/bmd-carrier detection and prenatal d

EMG computerized analysis of localized f
EMG computerized analysis of localized fatigue in duchenne muscular dystrophy
✍ Dr. Massimo Frascarelli; Letizia Rocchi; Isidoro Feola πŸ“‚ Article πŸ“… 1988 πŸ› John Wiley and Sons 🌐 English βš– 342 KB

EMG power spectra obtained during a sustained isometric contraction were analyzed in a group of 10 children affected by Duchenne muscular dystrophy (DMD) and compared with those obtained in a control group of 5 normal children. In myopathic subjects the isometric contraction caused an increase of th