Mitochondrial myopathy simulating spinal muscular atrophy

Roser Pons, Francesca Andreetta, Ching H. Wang, Tuan H. Vu, Eduardo Bonilla, Salvatore DiMauro, Darryl C. De Vivo

Research output: Contribution to journalArticlepeer-review


A patient with a severe progressive neuromuscular disorder resembling spinal muscular atrophy is reported. The initial muscle biopsy was consistent with a denervating process. DNA analysis did not reveal deletions in exons 7 and 8 of the survival motor neuron gene. Histology, histochemistry, and biochemistry of a second muscle biopsy suggested mitochondrial myopathy accompanying the denervating features. Immonohistochemistry using anti-DNA antibodies revealed only nuclear staining in skeletal muscle, suggesting mitochondrial DNA depletion. In patients with clinical features of spinal muscular atrophy and no deletions in the survival motor neuron gene, mitochondrial DNA depletion should be considered.

Original languageEnglish
Pages (from-to)153-158
Number of pages6
JournalPediatric Neurology
Issue number2
Publication statusPublished - Sep 1996

ASJC Scopus subject areas

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


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