Article
Pathogenic variants in three families with distal muscle involvement.
Neuromuscular disorders : NMD - 1 Jan 2023
Weterman Marian A J, Bronk Marieke, Jongejan Aldo, Hoogendijk Jessica E, Krudde Judith, Karjosukarso Dyah, Goebel Hans H, Aronica Eleonora, Jöbsis G Joost, van Ruissen Fred, van Spaendonck-Zwarts Karin Y, de Visser Marianne, Baas Frank
Abstract excerpt
Three families suspected of distal hereditary motor neuropathy underwent genetic screening with the aim to identify the molecular defect underlying the disease. The description of the identification reflects the shift in molecular diagnostics that was made during the last decades. Our candidate gene approach yielded a known pathogenic variant in BSCL2 (p.Asn88Ser) in one family, and via a CMT-capture, in HSPB1...
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