Article
[Screening for hereditary neuromuscular disorders with molecular genetic methods in the Roma population of Hungary].
Ideggyogyaszati szemle - 30 Nov 2008
Herczegfalvi Agnes, Pikó Henriett, Karcagi Veronika
Abstract excerpt
Recent medical genetic research has identified a number of novel, or previously known, but rare conditions, caused by private founder mutations. The Finnish and Ashkenazi Jew populations provide the best examples for identifying genes in unique genetic disorders. In these populations, research efforts and high-level medical services resulted in intense improvements of medical care and in organization of...
Topics
- Cataract
- Face
- Founder Effect
- Frameshift Mutation
- Gene Deletion
- Hereditary Sensory and Motor Neuropathy
- Humans
- Hungary
- Mass Screening
- Molecular Biology
- Muscular Atrophy, Spinal
- Muscular Dystrophies, Limb-Girdle
- Mutation
- Myasthenia Gravis
- Roma