Spinal muscular atrophy variant with congenital fractures Academic Article Article uri icon

Overview

MeSH Major

  • Monitoring, Intraoperative
  • Scoliosis
  • Spinal Cord

abstract

  • A single report of brothers born to first-cousin parents with a form of acute spinal muscular atrophy (SMA) and congenital fractures suggested that this combination represented a distinct form of autosomal recessive SMA. We describe a boy with hypotonia and congenital fractures whose sural nerve and muscle biopsies were consistent with a form of spinal muscular atrophy. Molecular studies identified no abnormality of the SMN(T) gene on chromosome 5. This case serves to validate the suggestion of a distinct and rare form of spinal muscular atrophy while not excluding possible X-linked inheritance.

publication date

  • November 5, 1999

Research

keywords

  • Academic Article

Identity

Digital Object Identifier (DOI)

  • 10.1002/(SICI)1096-8628(19991105)87:1<65::AID-AJMG13>3.0.CO;2-5

PubMed ID

  • 10528250

Additional Document Info

start page

  • 65

end page

  • 8

volume

  • 87

number

  • 1