Epidemiology of the mitochondrial DNA 8344a>G mutation for the myoclonus epilepsy and ragged red fibres (MERRF) syndrome [3]

Journal of Neurology Neurosurgery and Psychiatry

Volumn 74, Issue 8, 2003, Pages 1158-1159

  Remes, A M ^a   Karppa M ^a   Rusanen, H ^a   Majamaa, K ^a   Moilanen, J S ^a   Hassinen, I E ^a   Uimonen, S ^a   Sorri, M ^a   Salmela, P I ^a   Karvonen, S L ^a,b  

^a UNIVERSITY OF OULU   (Finland)

^b UNIVERSITY OF HELSINKI   (Finland)

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA; TRANSFER RNA;

ADULT; CLINICAL FEATURE; FINLAND; GENE FREQUENCY; GENE MUTATION; HUMAN; LETTER; MAJOR CLINICAL STUDY; MELAS SYNDROME; MERRF SYNDROME; MYOCLONUS EPILEPSY; PREVALENCE; PRIORITY JOURNAL;

DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; EPILEPSIES, MYOCLONIC; FINLAND; GENE FREQUENCY; GENETICS, POPULATION; HUMANS; MERRF SYNDROME; RNA, TRANSFER, LYS;

EID: 0042204972     PISSN: 00223050     EISSN: None     Source Type: Journal    
DOI: 10.1136/jnnp.74.8.1158     Document Type: Letter

References (7)

1. Chinnery PF, Howell N, Lightowlers RN, et al. Molecular pathology of MELAS and MERRF. The relationship between mutation load and clinical phenotypes. Brain 1997;120:1713-21.
2. Majamaa K, Moilanen JS, Uimonen S, et al. Epidemiology of A3243G, the mutation for mitochondrial encephalopathy, lactic acidosis, and strokelike episodes: prevalence of the mutation in an adult population. Am J Hum Genet 1998;63:447-54.
3. Chinnery PF, Johnson MA, Wardell TM, et al. The epidemiology of pathogenetic mitochondrial DNA mutations. Ann Neurol 2000;48:188-93.
4. Darin N, Oldfors A, Moslemi A-R, et al. The incidence of mitochondrial encephalomyopathies in childhood: clinical features and morphological, biochemical, and DNA abnormalities. Ann Neurol 2001;49:377-83.
5. Liang M-H, Wong L-JC. Yield of mtDNA mutation analysis in 2,000 patients. Am J Med Genet 1998;77:395-400.
6. Moilanen JS, Majamaa K. Relative fitness of carriers of the mitochondrial DNA mutation 3243A>G. Eur J Hum Genet 2002;9:59-62.
7. Chomyn A. The myoclonic epilepsy and ragged-red fiber mutation provides new insights into human mitochondrial function and genetics. Am J Hum Genet 1998;62:745-51.