期刊
JOURNAL OF CHILD NEUROLOGY
卷 22, 期 11, 页码 1301-1304出版社
SAGE PUBLICATIONS INC
DOI: 10.1177/0883073807307105
关键词
spinal muscular atrophy; myotubular myopathy; myotubularin
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 immuno-histochernical 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.
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