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

OBJECTIVES: Leigh syndrome is a progressive encephalopathy characterized by symmetrical lesions in brain. This study aimed to investigate the clinicopathologic and genetic characteristics of a family with Leigh syndrome and hereditary neuropathy with liability to pressure palsy (HNPP). METHODS: Data...

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Detalles Bibliográficos
Autores principales: Kuroha, Yasuko, Ishiguro, Takanobu, Tada, Mari, Hara, Norikazu, Murayama, Kei, Kawachi, Izumi, Kasuga, Kensaku, Miyashita, Akinori, Hasegawa, Arika, Takahashi, Tetsuya, Matsubara, Nae, Onodera, Osamu, Kakita, Akiyoshi, Koike, Ryoko, Ikeuchi, Takeshi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2022
Materias:
Clinical/Scientific Note
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9516616/
https://www.ncbi.nlm.nih.gov/pubmed/36176336
http://dx.doi.org/10.1212/NXG.0000000000200030

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