A mitochondrial tRNAMet mutation causing developmental delay, exercise intolerance and limb girdle phenotype with onset in early childhood

被引:9
作者
Born, Alfred Peter [1 ]
Duno, Morten [2 ]
Rafiq, Jabin [3 ]
Risom, Lotte [2 ]
Wibrand, Flemming [2 ]
Ostergaard, Elsebet [2 ]
Vissing, John [3 ]
机构
[1] Univ Copenhagen, Rigshosp, Paediat Clin, DK-1168 Copenhagen, Denmark
[2] Univ Copenhagen, Rigshosp, Dept Clin Genet, DK-1168 Copenhagen, Denmark
[3] Univ Copenhagen, Rigshosp, Neuromuscular Res Unit, DK-1168 Copenhagen, Denmark
关键词
Mitochondrial tRNA(Met) mutation; Limb-girdle muscle weakness; Exercise intolerance; Lactic acidosis;
D O I
10.1016/j.ejpn.2014.10.006
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
A 10-year-old girl presented with exercise intolerance, learning difficulty, and muscle weakness in a limb girdle distribution. She had delayed achievement of motor milestones and difficulties with social interaction at pre-school age. Muscle biopsy showed no myopathic or dystrophic features, but 90% COX negative fibres and ragged blue fibres. Respiratory chain enzyme analysis in muscle showed a combined deficiency and mitochondrial DNA sequencing revealed the presence of an m.4450G>A mutation in the MT-TM gene encoding the tRNA for methionine. The mutation was only detected in mtDNA extracted from muscle and skin fibroblast, and could not be found in other tissues or in the mother. This is the second patient reported in the literature with a mitochondrial myopathy due to a mt-tRNA(Met) mutation. The first patient, a 30-year-old woman, presented with exercise intolerance, limb girdle muscle weakness, lactic acidosis, learning difficulty, and growth retardation in early childhood. Thus, the two patients exhibit strikingly overlapping phenotypes. (C) 2014 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.
引用
收藏
页码:69 / 71
页数:3
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