Heterogeneous clinical presentation of the mtDNA NARP/T8993G mutation.
Neurology
; 49(1): 270-3, 1997 Jul.
Article
in En
| MEDLINE
| ID: mdl-9222207
ABSTRACT
To obtain a better molecular definition of patients with syndromic retinitis pigmentosa, we screened for mitochondrial DNA (mtDNA) alterations of the two ATPase genes and 22 tRNA-coding sequences in 10 patients whose features resembled NARP (neuropathy, ataxia, and retinitis pigmentosa) syndrome. In two patients, one of whom showed features mimicking Kearns-Sayre syndrome, we identified a heteroplasmic T8993G mutation (average 80%) in the mitochondrial ATPase 6 gene. There was no mutated mtDNA in muscle and leukocytes from the mother of one patient or in leukocytes from his brother, suggesting a rapid segregation of the mutated nucleotide. MtDNA analysis should be considered in the differential diagnosis of patients with syndromic retinitis pigmentosa.
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Database:
MEDLINE
Main subject:
Polymorphism, Genetic
/
DNA, Mitochondrial
/
Retinitis Pigmentosa
Type of study:
Prognostic_studies
Limits:
Adult
/
Female
/
Humans
/
Male
Language:
En
Year:
1997
Type:
Article