Journal of the neurological sciences · 2010
A novel point mutation in the mitochondrial tRNA((Trp)) gene produces late-onset encephalomyopathy, plus additional features.
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Malfatti Edoardo, Cardaioli Elena, Battisti Carla, Da Pozzo Paola, Malandrini Alessandro, Rufa Alessandra, Rocchi Raffaele, Federico Antonio
Аннотация
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/PATIENTS: 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.
CONCLUSION: We were able to identify a novel mtDNA tRNA((Trp)) gene pathogenic mutation.
OBJECTIVE: To identify the molecular defect underlying a mitochondrial encephalomyopathy.
METHODS/PATIENTS: 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.
CONCLUSION: We were able to identify a novel mtDNA tRNA((Trp)) gene pathogenic mutation.