Article (Scientific journals)
A newborn with spinal muscular atrophy type 0 presenting with a clinicopathological picture suggestive of myotubular myopathy.
DEBRAY, François-Guillaume; Nadeau, Amelie; D'Anjou, Guy et al.
2007In Journal of Child Neurology, 22 (11), p. 1301-4
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Keywords :
Humans; Infant, Newborn; Male; Muscle, Skeletal/metabolism/pathology/ultrastructure; Muscular Atrophy, Spinal/metabolism/pathology; Myopathies, Structural, Congenital/diagnosis; Protein Tyrosine Phosphatases, Non-Receptor/metabolism
Abstract :
[en] 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.
Disciplines :
Genetics & genetic processes
Author, co-author :
DEBRAY, François-Guillaume ;  Centre Hospitalier Universitaire de Liège - CHU > Génétique
Nadeau, Amelie
D'Anjou, Guy
Debray, Guillaume
Robitaille, Yves
Simard, Louise R.
Vanasse, Michel
Language :
English
Title :
A newborn with spinal muscular atrophy type 0 presenting with a clinicopathological picture suggestive of myotubular myopathy.
Publication date :
2007
Journal title :
Journal of Child Neurology
ISSN :
0883-0738
eISSN :
1708-8283
Publisher :
SAGE Publications, New York, United States - New York
Volume :
22
Issue :
11
Pages :
1301-4
Peer reviewed :
Peer Reviewed verified by ORBi
Available on ORBi :
since 18 January 2016

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