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

被引：9

作者：

Malfatti, Edoardo ^{[1
]}

Cardaioli, Elena ^{[1
]}

Battisti, Carla ^{[1
]}

Da Pozzo, Paola ^{[1
]}

Malandrini, Alessandro ^{[1
]}

Rufa, Alessandra ^{[1
]}

Rocchi, Raffaele ^{[2
]}

Federico, Antonio ^{[1
]}

机构：

[1] Univ Siena, Dept Neurol Neurosurg & Behav Sci, I-53100 Siena, Italy

[2] Univ Siena, Dept Neurosci, Neurol Sect, I-53100 Siena, Italy

来源：

JOURNAL OF THE NEUROLOGICAL SCIENCES | 2010年 / 297卷 / 1-2期

关键词：

Mitochondrial diseases; mtDNA; Transfer RNA(TrP); TRANSFER-RNA; TRNA(TRP) GENE; MTDNA MUTATION; ENCEPHALOPATHY; DEFICIENCY; MYOPATHY; DATABASE; GENOME;

D O I：

10.1016/j.jns.2010.06.009

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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 51 year-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. (C) 2010 Elsevier B.V. All rights reserved.

引用

页码：105 / 108

页数：4

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