Biallelic COX10 Mutations and PMP22 Deletion in a Family With Leigh Syndrome and Hereditary Neuropathy With Liability to Pressure Palsy Article Swipe

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Yasuko Kuroha , Takanobu Ishiguro , Mari Tada , Norikazu Hara , Kei Murayama , Izumi Kawachi , Kensaku Kasuga , Akinori Miyashita , Arika Hasegawa , Tetsuya Takahashi , Nae Matsubara , Osamu Onodera , Akiyoshi Kakita , Ryoko Koike , Takeshi Ikeuchi ·

YOU? · · 2022 · Open Access · · DOI: https://doi.org/10.1212/nxg.0000000000200030

These findings suggest that in this family, Leigh syndrome is associated with a mitochondrial respiratory chain complex IV deficiency caused by biallelic COX10 mutations coexisting with HNPP caused by heterozygous PMP22 deletion.

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Proband Muscle biopsy Pathology Medicine Exome sequencing Missense mutation Exome Genetics Mutation Biology Biopsy Gene

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Type: article
Language: en
Landing Page: https://doi.org/10.1212/nxg.0000000000200030
PDF: https://ng.neurology.org/content/nng/8/5/e200030.full.pdf
OA Status: gold
Cited By: 4
References: 7
Related Works: 10
OpenAlex ID: https://openalex.org/W4297341015

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OpenAlex ID: https://openalex.org/W4297341015

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DOI: https://doi.org/10.1212/nxg.0000000000200030

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Title: Biallelic COX10 Mutations and PMP22 Deletion in a Family With Leigh Syndrome and Hereditary Neuropathy With Liability to Pressure Palsy

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Type: article

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Language: en

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Publication year: 2022

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Publication date: 2022-09-27

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Authors: Yasuko Kuroha, Takanobu Ishiguro, Mari Tada, Norikazu Hara, Kei Murayama, Izumi Kawachi, Kensaku Kasuga, Akinori Miyashita, Arika Hasegawa, Tetsuya Takahashi, Nae Matsubara, Osamu Onodera, Akiyoshi Kakita, Ryoko Koike, Takeshi Ikeuchi

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Landing page: https://doi.org/10.1212/nxg.0000000000200030

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PDF URL: https://ng.neurology.org/content/nng/8/5/e200030.full.pdf

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OA status: gold

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OA URL: https://ng.neurology.org/content/nng/8/5/e200030.full.pdf

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Concepts: Proband, Muscle biopsy, Pathology, Medicine, Exome sequencing, Missense mutation, Exome, Genetics, Mutation, Biology, Biopsy, Gene

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Cited by: 4

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Citations by year (recent): 2025: 3, 2024: 1

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References (count): 7

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Related works (count): 10

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