Possible mitochondrial dysfunction in a patient with deafness, dystonia, and cerebral hypomyelination (DDCH) due to BCAP31 Mutation

BACKGROUND: Deafness, dystonia, and cerebral hypomyelination (DDCH) is an X‐linked disorder due to hemizygous mutations of BCAP31. METHODS: We report an 8‐year‐old boy with DDCH who possibly accompanied mitochondrial dysfunction. Clinical evaluation, respiratory chain enzyme assay, and whole exome s...

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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Mol Genet Genomic Med
Prif Awduron: Shimizu, Kenji, Oba, Daiju, Nambu, Ryusuke, Tanaka, Manabu, Oguma, Eiji, Murayama, Kei, Ohtake, Akira, Yoshiura, Koh‐ichiro, Ohashi, Hirofumi
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: John Wiley and Sons Inc. 2020
Pynciau:
Clinical Reports
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC7057082/
https://ncbi.nlm.nih.gov/pubmed/31953925
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1129
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