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
Clinical Reasoning: A 39-Year-Old Man With Asymmetric Distal Weakness and Loss of Sensitivity
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DOI: 10.1212/wnl.0000000000201410
Abstract: A 39-year-old man presented with an asymmetric distal weakness and loss of sensitivity sequentially affecting both lower extremities and the left upper limb. Nerve conduction studies showed a multifocal sensory and motor axonal neuropathy, and… read more here.
Keywords: old man; loss; distal weakness; year old ... See more keywords