Congenital asymmetric distal myopathy with hemifacial weakness caused by a heterozygous large de novo mosaic deletion in nebulin
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DOI: 10.1016/j.nmd.2021.03.006
Abstract: We report the first mosaic mutation, a deletion of exons 11-107, identified in the nebulin gene in a Finnish patient presenting with a predominantly distal congenital myopathy and asymmetric muscle weakness. The female patient is… read more here.
Keywords: congenital asymmetric; myopathy hemifacial; weakness; deletion ... See more keywords