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
收藏
页码：105 / 108
页数：4
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