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Periaxin mutation causes early-onset but slow-progressive Charcot-Marie-Tooth disease.
Kijima, Kazuki; Numakura, Chikahiko; Shirahata, Emi; Sawaishi, Yukio; Shimohata, Mitsuteru; Igarashi, Shuichi; Tanaka, Tomohiro; Hayasaka, Kiyoshi.
Afiliación
  • Kijima K; Department of Pediatrics, Yamagata University School of Medicine, 2-2-2 Iida-nishi, Yamagata 990-9585, Japan.
  • Numakura C; Department of Pediatrics, Yamagata University School of Medicine, 2-2-2 Iida-nishi, Yamagata 990-9585, Japan.
  • Shirahata E; Department of Pediatrics, Yamagata University School of Medicine, 2-2-2 Iida-nishi, Yamagata 990-9585, Japan.
  • Sawaishi Y; Department of Pediatrics, Akita University School of Medicine, Akita, Japan.
  • Shimohata M; Department of Neurology, Brain Research Institute, Niigata University, Niigata, Japan.
  • Igarashi S; Department of Neurology, Brain Research Institute, Niigata University, Niigata, Japan.
  • Tanaka T; Department of Neurology, Toyooka Hospital, Hyogo, Japan.
  • Hayasaka K; Department of Pediatrics, Yamagata University School of Medicine, 2-2-2 Iida-nishi, Yamagata 990-9585, Japan. hayasaka@med.id.yamagata-u.ac.jp.
J Hum Genet ; 49(7): 376-379, 2004.
Article en En | MEDLINE | ID: mdl-15197604
Periaxin (PRX) plays a significant role in the myelination of the peripheral nerve. To date, seven non-sense or frameshift PRX mutations have been reported in six pedigrees with Dejerine-Sottas neuropathy or severe Charcot-Marie-Tooth neuropathy (CMT). We detected a PRX mutation in three patients in the screening of 66 Japanese demyelinating CMT patients who were negative for the gene mutation causing dominant or X-linked demyelinating CMT. Three unrelated patients were homozygous for a novel R1070X mutation and presented early-onset but slowly progressive distal motor and sensory neuropathies. Mutations lacking the carboxyl-terminal acidic domain may show loss-of-function effects and cause severe demyelinating CMT.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedad de Charcot-Marie-Tooth / Proteínas de la Membrana / Mutación Tipo de estudio: Etiology_studies Límite: Adult / Child, preschool / Female / Humans / Male / Middle aged País/Región como asunto: Asia Idioma: En Revista: J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2004 Tipo del documento: Article País de afiliación: Japón Pais de publicación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedad de Charcot-Marie-Tooth / Proteínas de la Membrana / Mutación Tipo de estudio: Etiology_studies Límite: Adult / Child, preschool / Female / Humans / Male / Middle aged País/Región como asunto: Asia Idioma: En Revista: J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2004 Tipo del documento: Article País de afiliación: Japón Pais de publicación: Reino Unido