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 journalArticle

52 Citations (Scopus)

Abstract

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
Volume15
Issue number2
DOIs
Publication statusPublished - Sep 1996

Fingerprint

Mitochondrial Myopathies
Spinal Muscular Atrophy
Motor Neurons
Mitochondrial DNA
Biopsy
Muscles
Antinuclear Antibodies
Biochemistry
Genes
Exons
Histology
Skeletal Muscle
Staining and Labeling
DNA

ASJC Scopus subject areas

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

Cite this

Pons, R., Andreetta, F., Wang, C. H., Vu, T. H., Bonilla, E., DiMauro, S., & De Vivo, D. C. (1996). Mitochondrial myopathy simulating spinal muscular atrophy. Pediatric Neurology, 15(2), 153-158. https://doi.org/10.1016/0887-8994(96)00118-X

Mitochondrial myopathy simulating spinal muscular atrophy. / Pons, Roser; Andreetta, Francesca; Wang, Ching H.; Vu, Tuan H.; Bonilla, Eduardo; DiMauro, Salvatore; De Vivo, Darryl C.

In: Pediatric Neurology, Vol. 15, No. 2, 09.1996, p. 153-158.

Research output: Contribution to journalArticle

Pons, R, Andreetta, F, Wang, CH, Vu, TH, Bonilla, E, DiMauro, S & De Vivo, DC 1996, 'Mitochondrial myopathy simulating spinal muscular atrophy', Pediatric Neurology, vol. 15, no. 2, pp. 153-158. https://doi.org/10.1016/0887-8994(96)00118-X
Pons, Roser ; Andreetta, Francesca ; Wang, Ching H. ; Vu, Tuan H. ; Bonilla, Eduardo ; DiMauro, Salvatore ; De Vivo, Darryl C. / Mitochondrial myopathy simulating spinal muscular atrophy. In: Pediatric Neurology. 1996 ; Vol. 15, No. 2. pp. 153-158.
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