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Article

Congenital asymmetric distal myopathy with hemifacial weakness caused by a heterozygous large de novo mosaic deletion in nebulin.

Neuromuscular disorders : NMD - 1 Jun 2021

Sagath Lydia, Lehtokari Vilma-Lotta, Välipakka Salla, Vihola Anna, Gardberg Maria, Hackman Peter, Pelin Katarina, Jokela Manu, Kiiski Kirsi, Udd Bjarne, Wallgren-Pettersson Carina

Abstract excerpt

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 ambulant and currently 26 years old. Muscle biopsies showed myopathic features with type 1 fibre predominance, strikingly hypotrophic type 2 fibres and central nuclei, but no nemaline...

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PMID: 33933294
DOI: 10.1016/j.nmd.2021.03.006

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