title: Merrf family with 8344 mutation in tRNA (lys). Evidence of a mitochondrial vasculopathy in muscle biopsies.
abstract: This article reports a new MERRF family. The mother, regarded as suffering from Ramsay-Hunt Syndrome, and her three daughters, had the same clinical pattern: myoclonic epilepsy and ataxia. Two daughters were studied on morphological, biochemical and molecular genetic levels. Muscle biopsies showed ragged-red fibres and mitochondrial vasculopathy. Arterioles were strongly SDH-reactive and COX-negative. By electron microscopy, abnormal mitochondria were observed in skeletal muscle fibres, in smooth muscle fibres of intramuscular vessels and in sweat gland epithelium. The study of the respiratory chain showed complex IV and I + IV deficiency, respectively. Mitochondrial tRNA (lys) mutation at position 8344 was pointed out as previously reported in the MERRF syndrome.
authors.affiliation: Department of Neuropathology, CHU Bordeaux, France.
authors.forename: M
authors.initials: M
authors.lastname: Coquet
authors.forename: F
authors.initials: F
authors.lastname: Degoul
authors.forename: A
authors.initials: A
authors.lastname: Vital
authors.forename: M
authors.initials: M
authors.lastname: Malgat
authors.forename: J P
authors.initials: JP
authors.lastname: Mazat
authors.forename: C
authors.initials: C
authors.lastname: Louvet-Giendaj
authors.forename: D
authors.initials: D
authors.lastname: Fontan
authors.forename: F
authors.initials: F
authors.lastname: Tison
authors.forename: M
authors.initials: M
authors.lastname: Diry
authors.forename: C
authors.initials: C
authors.lastname: Marsac
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D001706:Biopsy; D005260:Female; D006801:Humans; D017243:MERRF Syndrome / Q000235:genetics* / Q000473:pathology*; D008297:Male; D008928:Mitochondria / Q000473:pathology / Q000648:ultrastructure; D008931:Mitochondria, Muscle / Q000473:pathology* / Q000648:ultrastructure; D009132:Muscles / Q000098:blood supply / Q000473:pathology*; D017354:Point Mutation; D012357:RNA, Transfer, Lys / Q000235:genetics*; D012867:Skin / Q000473:pathology / Q000648:ultrastructure
chemical_list: D012357:RNA, Transfer, Lys