Proximal autosomal recessive types of spinal muscular atrophy

O. V. Kolokolov, G. K. Yudina, N. N. Solovykh, O. V. Evgrafov

Research output: Contribution to journalArticlepeer-review

Abstract

One hundred and three patients with spinal muscular atrophy (SMA) were registered in a population medical genetic study of autosomal recessive childhood proximal SMA in Saratov region. Twenty-five patients were investigated complexly, using biochemical analysis of some enzymes, electroneuromyography, magnetic resonance imaging of spinal cord, muscle biopsy and molecular genetic testing. Pronounced clinical polymorphism and genetic heterogeneity of the disease were revealed.

Original languageEnglish (US)
Pages (from-to)66-68
Number of pages3
JournalZhurnal Nevrologii i Psikhiatrii imeni S.S. Korsakova
Volume103
Issue number8
StatePublished - 2003
Externally publishedYes

All Science Journal Classification (ASJC) codes

  • Clinical Neurology
  • Psychiatry and Mental health

Keywords

  • Autosomal recessive spinal muscular atrophy in children
  • Molecular genetics
  • Muscular atrophy

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