Mitochondrial DNA 3252A>G mutation presenting as MERRF/MELAS overlapping syndrome: A case report

被引：0

作者：

Tan, Yin Yin ^{[1
]}

Tee, Ting Yoong ^{[1
]}

Chew, Farn Ye ^{[1
]}

Kok, Huey Tean ^{[1
]}

Rani, Nor Haizura Binti Abd ^{[3
]}

Ngu, Lock Hock ^{[2
]}

Viswanathan, Shanthi ^{[1
]}

机构：

[1] Hosp Kuala Lumpur, Dept Neurol, Jalan Pahang, Kuala Lumpur 50586, Malaysia

[2] Hosp Kuala Lumpur, Dept Genet, Kuala Lumpur, Malaysia

[3] Hosp Kuala Lumpur, Dept Pathol, Kuala Lumpur, Malaysia

来源：

NEUROLOGY ASIA | 2023年 / 28卷 / 04期

关键词：

Myoclonic epilepsy with ragged red fibers (MERRF); Mitochondrial encephalomyopathy; lactic acidosis and stroke-like episodes (MELAS); point mutation m.3252A>G; mitochondrial DNA; POINT MUTATION; MELAS;

D O I：

10.54029/2023tzs

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

We report a case of 25 years old male presented with a complex phenotype of myoclonic epilepsy with ragged red fibers (MERRF) and mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) harbouring m.3252A>G mutation in the mitochondrially encoded tRNA leucine 1 (UUA/G) [MT-TL1] gene encoding the mitochondrial transfer ribonucleic acid (tRNA) for leucine. He presented with frequent myoclonus seizure, stroke-like episodes, elevated blood lactate with muscle biopsy showed numerous ragged-red fibers suggestive of a mitochondrial disorder. Whole mitochondrial genome sequencing revealed no mutations other than the A-to-G transition at nucleotide position 3252. This case report is the first to describe the m.3252A>G mutation in association with the MERRF/MELAS overlap syndrome.

引用

页码：1073 / 1076

页数：4

共 12 条

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Mitochondrial DNA 3252A&gt;G mutation presenting as MERRF/MELAS overlapping syndrome: A case report

Mitochondrial DNA 3252A>G mutation presenting as MERRF/MELAS overlapping syndrome: A case report