Severe encephalomyopathy in a patient with homoplasmic A5814G point mutation in mitochondrial tRNACys gene.
Neuromuscul Disord
; 17(3): 258-61, 2007 Mar.
Article
in En
| MEDLINE
| ID: mdl-17241783
ABSTRACT
We report a patient with severe encephalomyopathy and homoplasmic A5814G point mutation in the mitochondrial DNA tRNA gene for cysteine. This mutation had been reported in heteroplasmic condition in patients with different clinical phenotypes. Our results confirm the pathogenicity of the mutation and support the concept that homoplasmic mutations in tRNA genes can be responsible for mitochondrial disorders with variable penetrance. This report also extends the clinical spectrum associated with the A5814G mutation.
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
RNA, Transfer, Cys
/
Point Mutation
/
Mitochondrial Encephalomyopathies
/
Mitochondria
Limits:
Adult
/
Female
/
Humans
Language:
En
Journal:
Neuromuscul Disord
Journal subject:
NEUROLOGIA
Year:
2007
Document type:
Article
Affiliation country: