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Shortcast: Respiratory chain dysfunction in a patient with a heterozygous de novo CTBP1 variant

EPISODE · Sep 8, 2022 · 5 MIN

Shortcast: Respiratory chain dysfunction in a patient with a heterozygous de novo CTBP1 variant

from JIMD Podcasts · host Journal of Inherited Metabolic Disease

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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Shortcast: Respiratory chain dysfunction in a patient with a heterozygous de novo CTBP1 variant

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