Associated Papers
An X-Linked Ataxia Syndrome in a Family with Hearing Loss Associated with a Novel Variant in the BCAP31 Gene.
Paucar M et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2025
39831730 (PubMed )
Supplement: MDS-40-672-s006.pdf
Case Report: The first Korean familial case of BCAP31-related deafness, dystonia, and cerebral hypomyelination.
Suh YA et al.
Frontiers in Pediatrics, 2024
Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants.
Whalen S et al.
European Journal of Human Genetics : Ejhg, 2021
Mortality of Japanese patients with Leigh syndrome: Effects of age at onset and genetic diagnosis.
Ogawa E et al.
Journal of Inherited Metabolic Disease, 2020
31967322 (PubMed )
Supplement: JIMD-43-819-s004.xlsx › Sheet1
Possible mitochondrial dysfunction in a patient with deafness, dystonia, and cerebral hypomyelination (DDCH) due to BCAP31 Mutation.
Shimizu K et al.
Molecular Genetics & Genomic Medicine, 2020
Mutations in BCAP31 cause a severe X-linked phenotype with deafness, dystonia, and central hypomyelination and disorganize the Golgi apparatus.
Cacciagli P et al.
American Journal of Human Genetics, 2013
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