The first decade of molecular genetics in neurology: Changing clinical thought and practice
- 1 August 1992
- journal article
- review article
- Published by Wiley in Annals of Neurology
- Vol. 32 (2) , 207-214
- https://doi.org/10.1002/ana.410320213
Abstract
Molecular genetics has had a powerful impact on clinical neurology. Definitions of disease are changing from clinical criteria to DNA analysis, resolving questions about the nature of clinically similar but not identical diseases. Genetic counseling is more reliable. Concepts of mendelian inheritance are being tested and new forms of mutation have been discovered to explain anticipation. Nonmendelian forms of inheritance have emerged; concepts of pathogenesis are on a more secure footing; and novel treatments are being explored.Keywords
This publication has 9 references indexed in Scilit:
- Disease Gene Identification: Ethical ConsiderationsHospital Practice, 1991
- The frequency of patients with dystrophin abnormalities in a limb‐girdle patient populationNeurology, 1991
- Discordance of muscular dystrophy in monozygotic female twins: Evidence supporting asymmetric splitting of the inner cell mass in a manifesting carrier of Duchenne dystrophyAmerican Journal of Medical Genetics, 1991
- Inherited human prion diseasesNeurology, 1990
- Partial dystrophin deficiency in monozygous twin carriers of the Duchenne gene discordant for clinical myopathyNeurology, 1990
- Familial X‐linked myalgia and crampsNeurology, 1989
- Deletions of mitochondrial DNA in Kearns‐Sayre syndromeNeurology, 1988
- Molecular genetics, pseudogenetics, and clinical neurologyNeurology, 1983
- Hyperkalemic Periodic ParalysisArchives of Neurology, 1967