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.

Malfatti, E., Cardaioli, E., Battisti, C., Da Pozzo, P., Malandrini, A., Rufa, A., et al. (2010). A novel point mutation in the mitochondrial tRNA((Trp)) gene produces late-onset encephalomyopathy, plus additional features. JOURNAL OF THE NEUROLOGICAL SCIENCES, 297(1-2), 105-108 [10.1016/j.jns.2010.06.009].

A novel point mutation in the mitochondrial tRNA((Trp)) gene produces late-onset encephalomyopathy, plus additional features

Malandrini, Alessandro;Rufa, Alessandra;Rocchi, Raffaele;Federico, Antonio
2010-01-01

Abstract

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.
2010
Malfatti, E., Cardaioli, E., Battisti, C., Da Pozzo, P., Malandrini, A., Rufa, A., et al. (2010). A novel point mutation in the mitochondrial tRNA((Trp)) gene produces late-onset encephalomyopathy, plus additional features. JOURNAL OF THE NEUROLOGICAL SCIENCES, 297(1-2), 105-108 [10.1016/j.jns.2010.06.009].
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11365/3491
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