Novel MYL1 Intron Variant With Expanded Phenotype.

Abstract excerpt

Congenital myopathy-14 (CMYO14) is an ultrarare autosomal recessive disorder caused by biallelic variants in MYL1, with only four patients reported to date. We describe what is likely the fifth reported patient, a neonate with severe hypotonia, respiratory insufficiency, and skeletal anomalies showing distinct histological changes of skeletal muscle consistent with all previously described patients. The patient...

Topics

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• Infant, Newborn
• Introns
• Muscle, Skeletal
• Mutation
• Myosin Light Chains