Myoclonic epilepsy with ragged‐red fibers (MERRF) syndrome: Report of a Chinese family with mitochondrial DNA point mutation in tRNALys gene

Wan Fang, Chin‐Chang ‐C Huang, Nai‐Shun ‐S Chu*, Cheng‐Chun ‐C Lee, Rou‐Shayn ‐S Chen, Cheng‐Yoong ‐Y Pang, Kwang‐Dar ‐D Shih, Yau‐Huei ‐H Wei

*Corresponding author for this work

Research output: Contribution to journalJournal Article peer-review

35 Scopus citations

Abstract

We report myoclonic epilepsy with ragged‐red fibers (MERRF) syndrome in a Chinese family with confirmed mitochondrial DNA point mutation. Six members of the family including the grandmother, two siblings, and three grandchildren were affected. Among them, action myoclonus was seen in five; short stature, muscle weakness, and mental retardation in four; lactic acidosis, hearing impairment, and ataxia in two; and seizures in one. Muscle biopsy from two affected siblings revealed ragged‐red fibers and abundant subsarcolemmal mitochondria with paracrystalline inclusions. Pedigree analysis suggests a maternal transmission. Analysis of mitochondrial DNA showed a point mutation from A to G at the 8344th nucleotide position located in the tRNALys gene. To our knowledge, this is the first report of MERRF syndrome with such genetic defect from a Chinese family. The present and previous reports support the notion that mitochondrial DNA point mutation at the 8344th nucleotide position is the most common cause of MERRF syndrome. © 1994 John Wiley & Sons, Inc.

Original languageEnglish
Pages (from-to)52-57
Number of pages6
JournalMuscle and Nerve
Volume17
Issue number1
DOIs
StatePublished - 01 1994

Keywords

  • MERRF
  • epilepsy
  • mitochondria
  • mitochondrial encephalomyopathy
  • muscle disease

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