Shortcast: Respiratory chain dysfunction in a patient with a heterozygous de novo CTBP1 variant
Sep 08, 2022•5 min
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Episode description
Dr Shanti Balasubramaniam and her team report a further case of a pathogenic, heterozygous, de novo variant in CTBP1 and discusses muscle biopsy findings in this disorder.
Mitochondrial respiratory chain dysfunction in a patient with a heterozygous de novo CTBP1 variant
Wui-Kwan Wong, et al
https://doi.org/10.1002/jmd2.12326
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