American journal of medical genetics. Part A
Novel MYL1 Intron Variant With Expanded Phenotype.
Maria Barington, Marie Balslev-Harder, Thomas Krag, Thomas van Overeem Hansen, Camilla Bernt Wulff, Ulrik Lausten-Thomsen, Tina Duelund Hjortshøj, Elsebet Østergaard
Published: 202610.1002/ajmga.70059
Abstract
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, respi…
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