Congenital or late-onset myopathy in patients with the T14709C mtDNA mutation

Michelangelo Mancuso, Silvio Ferraris, Yutaka Nishigaki, Gaetano Azan, Alessandro Mauro, Piero Sammarco, Sindu Krishna, Stacey K H Tay, Eduardo Bonilla, Stephen G. Romansky, Michio Hirano, Salvatore DiMauro

Research output: Contribution to journalArticle

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Abstract

Three patients with different clinical phenotypes harbored the same point mutation at nucleotide 14709 (T14709C) in the tRNA Glu gene of mitochondrial DNA (mtDNA). The first patient was a 21-month-old child with severe congenital myopathy, respiratory distress and mild mental retardation. Muscle biopsy showed about 12% cytochrome c oxidase (COX)-negative ragged-red fibers (RRFs), and markedly decreased activities of mitochondrial respiratory chain complexes I, III and IV. The other two patients were 51- and 55-year-old siblings with slowly progressive myopathy and diabetes mellitus. Muscle biopsy showed focal COX-negative RRFs and decreased activities of complexes I, III and IV. In all three patients, the T14709C mutation was abundant in muscle but present at lower levels in accessible tissues. Previously described patients with the same mutation also showed congenital or late-onset myopathy. Diabetes is frequently associated with both phenotypes and is a clinical clue to the molecular diagnosis.

Original languageEnglish
Pages (from-to)93-97
Number of pages5
JournalJournal of the Neurological Sciences
Volume228
Issue number1
DOIs
Publication statusPublished - Jan 15 2005

Fingerprint

Muscular Diseases
Mitochondrial DNA
Mutation
Muscles
RNA, Transfer, Glu
Myotonia Congenita
Electron Transport Complex I
Phenotype
Biopsy
Electron Transport Complex IV
Electron Transport
Point Mutation
Intellectual Disability
Siblings
Diabetes Mellitus
Oxidoreductases
Nucleotides
Genes

Keywords

  • Diabetes mellitus
  • Maternal inheritance
  • Mitochondrial myopathy
  • mtDNA

ASJC Scopus subject areas

  • Ageing
  • Clinical Neurology
  • Surgery
  • Developmental Neuroscience
  • Neurology
  • Neuroscience(all)

Cite this

Congenital or late-onset myopathy in patients with the T14709C mtDNA mutation. / Mancuso, Michelangelo; Ferraris, Silvio; Nishigaki, Yutaka; Azan, Gaetano; Mauro, Alessandro; Sammarco, Piero; Krishna, Sindu; Tay, Stacey K H; Bonilla, Eduardo; Romansky, Stephen G.; Hirano, Michio; DiMauro, Salvatore.

In: Journal of the Neurological Sciences, Vol. 228, No. 1, 15.01.2005, p. 93-97.

Research output: Contribution to journalArticle

Mancuso, M, Ferraris, S, Nishigaki, Y, Azan, G, Mauro, A, Sammarco, P, Krishna, S, Tay, SKH, Bonilla, E, Romansky, SG, Hirano, M & DiMauro, S 2005, 'Congenital or late-onset myopathy in patients with the T14709C mtDNA mutation', Journal of the Neurological Sciences, vol. 228, no. 1, pp. 93-97. https://doi.org/10.1016/j.jns.2004.10.018
Mancuso, Michelangelo ; Ferraris, Silvio ; Nishigaki, Yutaka ; Azan, Gaetano ; Mauro, Alessandro ; Sammarco, Piero ; Krishna, Sindu ; Tay, Stacey K H ; Bonilla, Eduardo ; Romansky, Stephen G. ; Hirano, Michio ; DiMauro, Salvatore. / Congenital or late-onset myopathy in patients with the T14709C mtDNA mutation. In: Journal of the Neurological Sciences. 2005 ; Vol. 228, No. 1. pp. 93-97.
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