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MR findings of Werdnig-Hoffmann disease in two infants.

Abstract
We report two infants with Werdnig-Hoffmann disease diagnosed by means of spinal MR imaging, histopathologic examination of muscle biopsy specimens, cloned DNA analysis, electrophysiological examination, and clinical history. The MR findings were consistent with previous histopathologic reports.
AuthorsC F Hsu, C Y Chen, Y S Yuh, Y H Chen, Y T Hsu, R A Zimmerman
JournalAJNR. American journal of neuroradiology (AJNR Am J Neuroradiol) Vol. 19 Issue 3 Pg. 550-2 (Mar 1998) ISSN: 0195-6108 [Print] UNITED STATES
PMID9541317 (Publication Type: Case Reports, Journal Article)
Topics
  • Atrophy
  • Electromyography
  • Electrophysiology
  • Female
  • Gene Deletion
  • Humans
  • Infant
  • Magnetic Resonance Imaging
  • Male
  • Muscle Fibers, Skeletal (pathology)
  • Muscle, Skeletal (pathology)
  • Spinal Muscular Atrophies of Childhood (diagnosis, genetics, physiopathology)

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