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Myoclonic epilepsy with ragged‐red fibers (MERRF) syndrome: Report of a Chinese family with mitochondrial DNA point mutation in tRNA Lys gene
Author(s) -
Fang Wan,
Huang ChinChang,
Chu NaiShun,
Lee ChengChun,
Chen RouShayn,
Pang ChengYoong,
Shih KwangDar,
Wei YauHuei
Publication year - 1994
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.880170107
Subject(s) - mitochondrial dna , point mutation , myoclonic epilepsy , genetics , muscle biopsy , biology , mutation , mitochondrial myopathy , mitochondrial disease , myoclonus , ataxia , lactic acidosis , microbiology and biotechnology , gene , epilepsy , medicine , pathology , endocrinology , biopsy , neuroscience
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 tRNA Lys 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.