DETECTION of CARRIERS and GENETIC COUNSELING IN DUCHENNE MUSCULAR DYSTROPHY BY RIBOSOMAL PROTEIN SYNTHESIS
- 1 November 1976
- journal article
- research article
- Published by Hindawi Limited in Acta Neurologica Scandinavica
- Vol. 54 (5) , 442-452
- https://doi.org/10.1111/j.1600-0404.1976.tb04376.x
Abstract
The in vitro protein synthesis by polyribosomes extracted from biopsied muscle (vastus lateralis) was studied in 47 known carriers, 87 possible carriers and in 60 normal females. A significant increase in specific activity of monomeric ribosomes, total polyribosomes and collagen synthesis was found in 46 (97.8%) known carriers and 47 (54%) possible carriers of Duchenne muscular dystrophy. The latter showed an increase in ribosomal protein synthesis in 10 (52.6%) of 19 mothers of isolated cases, 31 (53.3%) of 58 sisters, and 6 (60%) of 10 other female relatives. Serum creatine phosphokinase was increased in 30 (63.8%) of 47 known carriers.This publication has 16 references indexed in Scilit:
- Duchenne dystrophyNeurology, 1975
- CARRIER DETECTION AND GENETIC COUNSELLING IN DUCHENNE DYSTROPHYDevelopmental Medicine and Child Neurology, 1975
- Distinction between Duchenne and other muscular dystrophies by ribosomal protein synthesis.Journal of Medical Genetics, 1975
- Membrane protein kinase alteration in Duchenne muscular dystrophyNature, 1975
- FOLLOW-UP STUDY OF SERUM-CREATINE-KINASE IN CARRIERS OF DUCHENNE MUSCULAR DYSTROPHYThe Lancet, 1974
- Identification of carriers of Duchenne muscular dystrophy by muscle protein synthesisNeurology, 1973
- Ribosomal protein synthesis in Duchenne muscular dystrophyArchives of Biochemistry and Biophysics, 1971
- Mutation rate in Duchenne type of muscular dystrophy.Journal of Medical Genetics, 1970
- Increased Collagen Synthesis in Arthrogryposis Multiplex CongenitaArchives of Neurology, 1970
- Genetic counselling in X-linked muscular dystrophyJournal of the Neurological Sciences, 1969