Advanced Search

Journal Navigation

Journal Home

Subscriptions

Archive

Contact Us

Table of Contents

Click here for more information

CiteULike is a free service for managing and discovering scholarly references - click here to get started.

Sign In to gain access to subscriptions and/or personal tools.
Journal of Child Neurology
This Article
Right arrow Full Text (PDF)
Right arrow References
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in Web of Science
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to Saved Citations
Right arrow Download to citation manager
Right arrowRequest Permissions
Right arrow Request Reprints
Right arrow Add to My Marked Citations
Citing Articles
Right arrow Citing Articles via HighWire
Right arrow Citing Articles via Web of Science (1)
Right arrow Citing Articles via Google Scholar
Right arrow Citing Articles via Scopus
Google Scholar
Right arrow Articles by Nadeau, A.
Right arrow Articles by Vanasse, M.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Nadeau, A.
Right arrow Articles by Vanasse, M.
Right arrowPubmed/NCBI databases
Medline Plus Health Information
*Spinal Muscular Atrophy
Social Bookmarking
Add to CiteULike   Add to Complore   Add to Connotea   Add to Del.icio.us   Add to Digg   Add to Reddit   Add to Technorati   Add to Twitter  
What's this?

A Newborn With Spinal Muscular Atrophy Type 0 Presenting With a Clinicopathological Picture Suggestive of Myotubular Myopathy

Amelie Nadeau, MD

Service de Neurologie, Hôpital Ste-Justine, 3175, Côte Ste-Catherine, Montréal (Québec), H3T 1C5, Canada, mmvanasse{at}videotron.ca

Guy D'Anjou, MD

Department of Pediatrics, Neurology Division Hopital Ste-Justine, Universite de Montreal, Montreal, Canada

Guillaume Debray, MD

Department of Pediatrics, Genetics Division Hopital Ste-Justine, Universite de Montreal, Montreal, Canada

Yves Robitaille, MD

Department of Neuropathology Hôpital Ste-Justine, Université de Montréal, Montréal, Canada

Louise R. Simard, PhD

Department of Biochemistry and Medical Genetics University of Manitoba, Winnipeg, Canada

Michel Vanasse, MD

Department of Pediatrics, Neurology Division Hopital Ste-Justine, Universite de Montreal, Montreal, Canada

We report a male term newborn with genetically confirmed spinal muscular atrophy type 0, presenting with arthrogryposis and severe generalized weakness and requiring ventilatory support. Muscle biopsy revealed fibers with central nuclei resembling myotubes and negative myotubularin immunohistochemical staining compared with a control muscle biopsy. The absence of myotubularin associated with survival motor neuron protein deficiency suggests that survival motor neuron protein may have a role in muscle fiber maturation and myotubularin expression. Studying the pathology of this rare and lethal neonatal form of spinal muscular atrophy may further our understanding of spinal muscular atrophy pathogenesis.

Key Words: spinal muscular atrophy • myotubular myopathy • myotubularin

Journal of Child Neurology, Vol. 22, No. 11, 1301-1304 (2007)
DOI: 10.1177/0883073807307105
Add to CiteULike CiteULike   Add to Complore Complore   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us   Add to Digg Digg   Add to Reddit Reddit   Add to Technorati Technorati   Add to Twitter Twitter    What's this?


This article has been cited by other articles:


Home page
 Hum Mol GenetHome page
S. Kariya, G.-H. Park, Y. Maeno-Hikichi, O. Leykekhman, C. Lutz, M. S. Arkovitz, L. T. Landmesser, and U. R. Monani
Reduced SMN protein impairs maturation of the neuromuscular junctions in mouse models of spinal muscular atrophy
Hum. Mol. Genet., August 15, 2008; 17(16): 2552 - 2569.
[Abstract] [Full Text] [PDF]