ArticleChinese medical journal2018
A Novel Mutation of Mitochondrial T14709C Causes Myoclonic Epilepsy with Ragged Red Fibers Syndrome in a Chinese Patient.
Article in Chinese medical journal, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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7 citing papers in PubMed, 11 citations in OpenAlex.
- Review
- Delivery Systems for Mitochondrial Gene Therapy: A Review.Pharmaceutics · 2023Review
- Camptocormia and Other Orthopedic Compromise Dominating Mitochondrial Disorder: A Case Report.Cureus · 2020Article
- Overview of Atypical Diabetes.Endocrinology and metabolism clinics of North America · 2020Review
- Broadening the phenotype of m.5703G>A mutation in mitochondrial tRNAAsn gene from mitochondrial myopathy to myoclonic epilepsy with ragged red fibers syndrome.Chinese medical journal · 2019Article
- Mitochondrial tRNA Glutamic Acid Variant 14709T>C Manifesting as Myoclonic Epilepsy with Ragged Red Fibers.Chinese medical journal · 2018Article
- Reply to "Mitochondrial tRNA Glutamic Acid Variant 14709T>C Manifesting as Myoclonic Epilepsy with Ragged Red Fibers".Chinese medical journal · 2018Article
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6 authors at 2 institutions in 1 country.
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Abstract
backgroundMyoclonic epilepsy with ragged red fibers (MERRF) syndrome is characterized by myoclonus, generalized epilepsy, cerebellar ataxia, and ragged red fibers (RRFs) in the muscle. T-to-C transition at nucleotide position 14709 in the mitochondrial tRNA glutamic acid (tRNA
methodsClinical information of a 17-year-old patient was collected; muscle biopsy and next-generation sequencing (NGS) of whole mitochondrial and neuromuscular disease panel were then conducted. Finally, sanger sequencing was carried out to confirm the mutations.
resultsThe patient presented a typical MERRF phenotype with muscle weakness, epileptic seizure, clonic episodes, cerebellar ataxia, and spinal scoliosis. Muscle biopsy showed RRFs which indicated abnormal mitochondrial functions. NGS of whole mitochondrial gene revealed m.T14709C mutation, confirmed by Sanger sequencing.
conclusionWe present a sporadic patient with typical MERRF presentation carrying the mutation of m.T14709C, which expanded the spectrum of m.T14709C.
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