Duchenne muscular dystrophy
- 1 August 1984
- journal article
- research article
- Published by Springer Nature in Human Genetics
- Vol. 67 (3) , 252-256
- https://doi.org/10.1007/bf00291351
Abstract
A segregation analysis on 135 Duchenne families from Venetia (Italy) suggests that the proportion of sporadic cases might be less than expected. Support for this view is also given by an analysis of a pooled sample including 284 additional sibships from comparable studies published previously. Several hypotheses were tested: the maximum likelihood was obtained for a segregation frequency p=0.46 and for a proportion of sporadic cases x=0.227±0.048.This publication has 22 references indexed in Scilit:
- Complex segregation analysis and computer‐assisted genetic risk assessment for Duchenne muscular dystrophyAmerican Journal of Medical Genetics, 1983
- The genetic status of mothers of isolated cases of Duchenne muscular dystrophy.Journal of Medical Genetics, 1983
- Sporadic occurrence of Duchenne Muscular Dystrophy: evidence for new mutationClinical Genetics, 1980
- No sex difference in mutations rates of Duchenne muscular dystrophy.Journal of Medical Genetics, 1980
- Frequency of new mutants among boys with Duchenne muscular dystrophyAmerican Journal of Medical Genetics, 1980
- Systemic Membrane Defect in the Proximal Muscular DystrophiesNew England Journal of Medicine, 1978
- Estimation of proportion of new mutants among cases of Duchenne muscular dystrophy.Journal of Medical Genetics, 1978
- Pedigree testing in duchenne muscular dystrophyAnnals of Neurology, 1977
- FREQUENCY OF DUCHENNE MUSCULAR DYSTROPHY CARRIERSThe Lancet, 1977
- Segregation Analysis in Human GeneticsScience, 1958