Article
A pathogenic CTBP1 variant featuring HADDTS with dystrophic myopathology.
Neuromuscular disorders : NMD - 1 May 2023
Kadhim Hazim, El-Howayek Eliane, Coppens Sandra, Duff Jennifer, Topf Ana, Kaleeta Jean-Paul, Simoni Paolo, Boitsios Grammatina, Remiche Gauthier, Straub Volker, Vilain Catheline, Deconinck Nicolas
Abstract excerpt
HADDTS (Hypotonia, Ataxia, Developmental-Delay and Tooth-enamel defects) is a newly emerging syndrome caused by CTBP1 mutations. Only five reports (13 cases) are available; three contained muscle-biopsy results but none presented illustrated histomyopathology. We report a patient in whom whole-exome sequencing revealed a heterozygous de novo CTBP1 missense mutation (c.1024 C>T; p.(Arg342Trp)). Progressive...
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