TY - JOUR
T1 - Clinical features associated with the a → g transition at nucleotide 8344 of mtdna (“merrf mutation”)
AU - Silvestri, Gabriella
AU - Ciafaloni, E.
AU - Santorelli, F. M.
AU - Shanske, S.
AU - Servidei, Serenella
AU - Graf, W. D.
AU - Sumi, M.
AU - Dimauro, S.
PY - 1993
Y1 - 1993
N2 - We looked for the A → G transition at position 8344 of mtDNA in 150 patients, most of them with diagnosed or suspected mitochondrial disease, to assess the specificity of this mutation for the MERRF phenotype, to define the clinical spectrum associated with the mutation, and to study the relationship between percentage of mutation in muscle and clinical severity. Our results confirm the high correlation between the A → G transition at position 8344 and the MERRF syndrome, but they also show that this mutation can be associated with other phenotypes, including Leigh's syndrome, myoclonus or myopathy with truncal lipomas, and proximal myopathy. The absence of the mutation in four typical MERRF patients suggests that other mutations in the tRNALys gene, or elsewhere in the mitochondrial DNA, can produce the same phenotype. © 1993 American Academy of Neurology.
AB - We looked for the A → G transition at position 8344 of mtDNA in 150 patients, most of them with diagnosed or suspected mitochondrial disease, to assess the specificity of this mutation for the MERRF phenotype, to define the clinical spectrum associated with the mutation, and to study the relationship between percentage of mutation in muscle and clinical severity. Our results confirm the high correlation between the A → G transition at position 8344 and the MERRF syndrome, but they also show that this mutation can be associated with other phenotypes, including Leigh's syndrome, myoclonus or myopathy with truncal lipomas, and proximal myopathy. The absence of the mutation in four typical MERRF patients suggests that other mutations in the tRNALys gene, or elsewhere in the mitochondrial DNA, can produce the same phenotype. © 1993 American Academy of Neurology.
KW - MERRF
KW - ataxia
KW - mitochondrial diseases
KW - MERRF
KW - ataxia
KW - mitochondrial diseases
UR - http://hdl.handle.net/10807/166550
U2 - 10.1212/wnl.43.6.1200
DO - 10.1212/wnl.43.6.1200
M3 - Article
SN - 0028-3878
VL - 43
SP - 1200
EP - 1206
JO - Neurology
JF - Neurology
ER -