Abstract
The child in this vignette presented with neonatal hypotonia, feeding and respiratory difficulties. He had normal creatine kinase, myopathic EMG and muscle biopsy showed congenital fiber type disproportion (CFTD) which was caused by RYR1 mutations. CFTD is a relatively rare subtype of congenital myopathy which can be phenotypically and genotypically heterogeneous. The characteristic histologic hallmark of CFTD is type I fiber hypotrophy and abundance as well as absence of other histologic evidence of congenital myopathies.
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Ghosh, P.S., Lidov, H.G.W. (2020). A 6-Week-Old Boy with Neonatal Hypotonia and Feeding and Respiratory Difficulties. In: Zhou, L., Burns, D., Cai, C. (eds) A Case-Based Guide to Neuromuscular Pathology. Springer, Cham. https://doi.org/10.1007/978-3-030-25682-1_28
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DOI: https://doi.org/10.1007/978-3-030-25682-1_28
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