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  • Title: Congenital cytoplasmic body myopathy with survival motor neuron gene deletion or Werdnig-Hoffmann disease.
    Author: Vajsar J, Balslev T, Ray PN, Siegel-Bartelt J, Jay V.
    Journal: Neurology; 1998 Sep; 51(3):873-5. PubMed ID: 9748045.
    Abstract:
    A 5-week-old boy became rigid and developed cardiac arrest after receiving succinylcholine. He was resuscitated and ventilated but died at 5 months. Muscle biopsy demonstrated no neurogenic features and numerous cytoplasmic bodies, suggesting the possibility of congenital myopathy with cytoplasmic bodies. However, molecular analysis revealed a homozygous deletion of exons 7 and 8 of the survival motor neuron (SMN) gene, suggesting that the patient had Werdnig-Hoffmann disease. We recommend that every patient with congenital cytoplasmic body myopathy be tested for SMN gene deletion.
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