Associated Papers
COASY variant as a new genetic cause of riboflavin-responsive lipid storage myopathy.
Zheng Y et al.
Cell Discovery, 2024
38413569 (PubMed )
Supplement: 41421_2023_641_MOESM1_ESM.pdf
Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis.
van Dijk T et al.
European Journal of Human Genetics : Ejhg, 2018
Diagnosis of CoPAN by whole exome sequencing: Waking up a sleeping tiger's eye.
Evers C et al.
American Journal of Medical Genetics. Part A, 2017
Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation.
Dusi S et al.
American Journal of Human Genetics, 2014
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