A novel point mutation in the mitochondrial tRNA((Trp)) gene produces late-onset encephalomyopathy, plus additional features.
BACKGROUND
Mitochondrial diseases due to mitochondrial tRNA genes mutations are usually multisystem disorders with infantile or adult onset.


OBJECTIVE
To identify the molecular defect underlying a mitochondrial encephalomyopathy.


METHODS
Case report of a 51year-old woman presenting with late-onset myoclonic epilepsy plus additional features. Proband's mother presented hypothyroidism and diabetes.


RESULTS
Muscle biopsy showed mitochondrial changes. Respiratory chain activities were reduced. The novel G5538A mutation was identified in different tissues DNAs from the proband and from her mother.


CONCLUSIONS
We were able to identify a novel mtDNA tRNA((Trp)) gene pathogenic mutation.
Malfatti
Edoardo
E
Department of Neurological, Neurosurgical and Behavioural Sciences, University of Siena, Siena, Italy.
Cardaioli
Elena
E
Battisti
Carla
C
Da Pozzo
Paola
P
Malandrini
Alessandro
A
Rufa
Alessandra
A
Rocchi
Raffaele
R
Federico
Antonio
A
D003576:Electron Transport Complex IV / Q000378:metabolism; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods; D008875:Middle Aged; D008928:Mitochondria / Q000235:genetics* / Q000473:pathology; D017237:Mitochondrial Encephalomyopathies / Q000235:genetics* / Q000473:pathology; D008969:Molecular Sequence Data; D018482:Muscle, Skeletal / Q000201:enzymology / Q000473:pathology; D017354:Point Mutation / Q000235:genetics*; D012364:RNA, Transfer, Trp / Q000235:genetics*
D012364:RNA, Transfer, Trp; D003576:Electron Transport Complex IV