Which of the following is an example of Trinucleotide repeat mutation?: (A) Huntington's chorea, (B) Fragile-X-syndrome, (C) Friedreich ataxia, (D) All of the above
Answer is D. Polyglutamine Disorders Huntington Disease (HD) Spinobulbar Muscular Atrophy (SBMA) Spinocerebellar Ataxias (SCA types 1, 2, 3, 6, 7, and 17) Dentatorubro-Pallidoluysian Atrophy (DRPLA) Non-polyglutamine Disorders Fragile X Syndrome (FRAXA) Fragile XE Mental Retardation (FRAXE) Friedreich Ataxia (FRDA) Myotonic Dystrophy (DM, not MD) Spinocerebellar Ataxias (SCA types 8, and 12) Ref-D.M.Vasudevan 7/e p509