Abstract
We describe a two-generation family with combined clinical features of myoclonic epilepsy, progressive external ophthalmoplegia (PEO), proximal myopathy, pigmentary retinopathy, progressive deafness, basal ganglia calcification, and ragged-red fibers in a muscle biopsy specimen. One family member died unexpectedly at age 22 years. The molecular tests revealed an A- to-G transition at nucleotide position 3243 of the mitochondrial tRNA(Leu(UUR)) gene. No one in this family bad stroke-like episodes. Although the propositus (a 28-year-old woman) had a significant number of white hairs, the percentage of mutant mtDNA in white-hair roots was not different from that in the colored-hair roots. Our findings suggest that the 3243 mutation can be associated with mixed clinical features of myoclonic epilepsy with ragged-red fibers (MERRF) and PEO and that a preferential increase in the levels of the mutant mtDNA is not related to graying of hair, and hence to the hypothesized production of premature aging of cells.
| Original language | English |
|---|---|
| Pages (from-to) | 1334-1336 |
| Number of pages | 3 |
| Journal | Neurology |
| Volume | 46 |
| Issue number | 5 |
| State | Published - May 1 1996 |
Fingerprint
ASJC Scopus subject areas
- Neuroscience(all)
Cite this
A MERRF/PEO overlap syndrome associated with the mitochondrial DNA 3243 mutation. / Verma, Ashok; Moraes, Carlos T.; Shebert, Robert T.; Bradley, Walter G.
In: Neurology, Vol. 46, No. 5, 01.05.1996, p. 1334-1336.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - A MERRF/PEO overlap syndrome associated with the mitochondrial DNA 3243 mutation
AU - Verma, Ashok
AU - Moraes, Carlos T.
AU - Shebert, Robert T.
AU - Bradley, Walter G.
PY - 1996/5/1
Y1 - 1996/5/1
N2 - We describe a two-generation family with combined clinical features of myoclonic epilepsy, progressive external ophthalmoplegia (PEO), proximal myopathy, pigmentary retinopathy, progressive deafness, basal ganglia calcification, and ragged-red fibers in a muscle biopsy specimen. One family member died unexpectedly at age 22 years. The molecular tests revealed an A- to-G transition at nucleotide position 3243 of the mitochondrial tRNA(Leu(UUR)) gene. No one in this family bad stroke-like episodes. Although the propositus (a 28-year-old woman) had a significant number of white hairs, the percentage of mutant mtDNA in white-hair roots was not different from that in the colored-hair roots. Our findings suggest that the 3243 mutation can be associated with mixed clinical features of myoclonic epilepsy with ragged-red fibers (MERRF) and PEO and that a preferential increase in the levels of the mutant mtDNA is not related to graying of hair, and hence to the hypothesized production of premature aging of cells.
AB - We describe a two-generation family with combined clinical features of myoclonic epilepsy, progressive external ophthalmoplegia (PEO), proximal myopathy, pigmentary retinopathy, progressive deafness, basal ganglia calcification, and ragged-red fibers in a muscle biopsy specimen. One family member died unexpectedly at age 22 years. The molecular tests revealed an A- to-G transition at nucleotide position 3243 of the mitochondrial tRNA(Leu(UUR)) gene. No one in this family bad stroke-like episodes. Although the propositus (a 28-year-old woman) had a significant number of white hairs, the percentage of mutant mtDNA in white-hair roots was not different from that in the colored-hair roots. Our findings suggest that the 3243 mutation can be associated with mixed clinical features of myoclonic epilepsy with ragged-red fibers (MERRF) and PEO and that a preferential increase in the levels of the mutant mtDNA is not related to graying of hair, and hence to the hypothesized production of premature aging of cells.
UR - http://www.scopus.com/inward/record.url?scp=0029953124&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0029953124&partnerID=8YFLogxK
M3 - Article
C2 - 8628477
AN - SCOPUS:0029953124
VL - 46
SP - 1334
EP - 1336
JO - Neurology
JF - Neurology
SN - 0028-3878
IS - 5
ER -