Monomelic amyotrophy associated with the 7472insC mutation in the mtDNA tRNA Ser(UCN) gene

Vincenza Fetoni, Egill Briem, Franco Carrara, Marina Mora, Massimo Zeviani

Research output: Contribution to journalArticlepeer-review


We describe a 49-year-old male patient who experienced progressive amyotrophy with no sensorial abnormality in the left arm since 45 years of age. The neuromuscular syndrome was identical to that known as Hirayama disease, a rare form of focal lower motor neuron disease affecting the C7-C8-T1 metamers of the spinal cord. Asymmetric neurosensorial hearing loss was present since age 35 in the patient, and was also documented in an elder sister and in the mother. A muscle biopsy showed cytochrome c oxidase (COX) negative fibers but no ragged-red fibers, and mild reduction of COX was confirmed biochemically. The patient was found to have high levels of a known pathogenic mutation of mtDNA, the 7472insC in the gene encoding the tRNA Ser(UCN). Investigation on several family members showed a correlation between mutation load and clinical severity. This is the second report documenting the association of lower motor neurone involvement with a specific mtDNA.

Original languageEnglish
Pages (from-to)723-726
Number of pages4
JournalNeuromuscular Disorders
Issue number11
Publication statusPublished - Nov 2004

ASJC Scopus subject areas

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


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