Hostname: page-component-cd9895bd7-hc48f Total loading time: 0 Render date: 2024-12-25T15:17:03.889Z Has data issue: false hasContentIssue false
  • English
  • Français

A Genetic Study of Chronic Spinal Muscular Atrophy

Published online by Cambridge University Press:  01 August 2014

Sarah Bundey  and
R.E. Lovelace
Sarah Bundey*
Affiliation:
The Moore Clinic, The Johns Hopkins Hospital, Baltimore, Maryland The Neurological Institute, Columbia Presbyterian Hospital, New York, N.Y., USA
R.E. Lovelace
Affiliation:
The Moore Clinic, The Johns Hopkins Hospital, Baltimore, Maryland The Neurological Institute, Columbia Presbyterian Hospital, New York, N.Y., USA
*
The Infant Development Unit, Queen Elizabeth Medical Centre, Edgbaston, Birmingham B15 2TG, Great Britain

Abstract

Core share and HTML view are not available for this content. However, as you have access to this content, a full PDF is available via the ‘Save PDF’ action button.

The identity of an autosomal recessive form of chronic spinal muscular atrophy with clinical features intermediate between acute Werdnig-Hojfmann disease and Kugelberg-Welander disease is confirmed. This form accounts for the majority of patients with spinal muscular atrophy surviving into adult life. Spinal muscular atrophy with onset after 2 years of age is a heterogeneous group and both autosomal recessive and autosomal dominant forms occur.

Type
6. Free Contributions: Second Group
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 23 , supplement S1 , January 1974 , pp. 229 - 232
Copyright
Copyright © The International Society for Twin Studies 1974