Spinal Muscular Atrophy and Arthrogryposis

J Gordon Millichap

doi:10.15844/pedneurbriefs-11-10-4

Spinal Muscular Atrophy and Arthrogryposis

Pediatric Neurology Briefs

Volume 11 (1997): Issue 10

By: J Gordon Millichap

Open Access

|Oct 1997

Abstract

Four infants with neurogenic arthrogryposis who died of respiratory failure before 1 month of age had DNA testing of autopsy specimens for SMNT gene deletion in a study at the Children’s Hospital of Philadelphia, PA, and the Children’s Hospital at Dartmouth, Lebanon, NH.

References

Bingham PM Shen N Rennert H Rorke LB Black AW Marin-Padilla MM Arthrogryposis due to infantile neuronal degeneration associated with deletion of the SMNT gene Neurology 1997 Sep 49 3 848 51 10.1212/WNL.49.3.848 9305352
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Korinthenberg R Sauer M Ketelsen UP Hanemann CO Stoll G Graf M Congenital axonal neuropathy caused by deletions in the spinal muscular atrophy region Ann Neurol 1997 Sep 42 3 364 8 10.1002/ana.410420314 9307259
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Articles in this issue

DOI: https://doi.org/10.15844/pedneurbriefs-11-10-4 | Journal eISSN: 2166-6482

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Language: English

Page range: 75 - 75

Published on: Oct 1, 1997

Published by: Pediatric Neurology Briefs Publishers

In partnership with: Paradigm Publishing Services

Keywords:

Anterior Horn Cell Loss,

Neurogenic Arthrogryposis,

Respiratory Failure

© 1997 J Gordon Millichap, published by Pediatric Neurology Briefs Publishers
This work is licensed under the Creative Commons Attribution 4.0 License.

Volume 11 (1997): Issue 10