title: A newborn with spinal muscular atrophy type 0 presenting with a clinicopathological picture suggestive of myotubular myopathy.
abstract: 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.
authors.affiliation: Service de Neurologie, Hôpital Ste-Justine, 3175, Côte Ste-Catherine, Montréal (Québec), H3T 1C5, Canada.
authors.forename: Amelie
authors.initials: A
authors.lastname: Nadeau
authors.forename: Guy
authors.initials: G
authors.lastname: D'Anjou
authors.forename: Guillaume
authors.initials: G
authors.lastname: Debray
authors.forename: Yves
authors.initials: Y
authors.lastname: Robitaille
authors.forename: Louise R
authors.initials: LR
authors.lastname: Simard
authors.forename: Michel
authors.initials: M
authors.lastname: Vanasse
mesh_terms: D006801:Humans; D007231:Infant, Newborn; D008297:Male; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology / Q000648:ultrastructure; D009134:Muscular Atrophy, Spinal / Q000378:metabolism / Q000473:pathology*; D020914:Myopathies, Structural, Congenital / Q000175:diagnosis*; D054558:Protein Tyrosine Phosphatases, Non-Receptor / Q000378:metabolism
chemical_list: D054558:Protein Tyrosine Phosphatases, Non-Receptor; C099588:myotubularin