Neuromuscular syndrome associated with the 3291T→C mutation of mitochondrial DNA: A second case

Graziella Uziel, Franco Carrara, Tiziana Granata, Eleonora Lamantea, Marina Mora, Massimo Zeviani

Research output: Contribution to journalArticlepeer-review


A mutation was found in an Italian child affecting the gene encoding the mitochondrial transfer RNA for leucine (codon UUR). This mutation (3291T→C) had previously been reported in a single Japanese patient. In contrast with the original patient, who suffered from early-onset mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS), our patient presented an apparently isolated mild myopathy. Mutational analysis in the proband and her family showed that the mutation was heteroplasmic, and that its relative amount was positively correlated with the severity of the phenotype. These findings lead to the definitive confirmation that the 3291T→C is indeed pathogenic. As commonly found in mitochondrial-DNA related disorders, also for this mutation different clinical manifestations can be associated with the same genetic abnormality. Copyright (C) 2000 Elsevier Science B.V.

Original languageEnglish
Pages (from-to)415-418
Number of pages4
JournalNeuromuscular Disorders
Issue number6
Publication statusPublished - Aug 1 2000


  • 3291T→C
  • mtDNA mutation
  • Myopathy
  • Neuromuscular syndrome

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience
  • Neurology


Dive into the research topics of 'Neuromuscular syndrome associated with the 3291T→C mutation of mitochondrial DNA: A second case'. Together they form a unique fingerprint.

Cite this