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article, access, japan, mutations, peripheral, myelin, medicine, akita, privacy, cookies, content, protein, neuropathy, department, information, publish, search, gene, dejerinesottas, disease, hiroyuki, pmp, open, university, data, log, journal, research, human, pedigrees, ikegami, ikeda, aoyama, mutation, nucleotide, discover, school, springer, function, optional, personal, parties, policy, find, track, genetics, cite, tohru, masahiro, takasumi,

Topics {✒️}

charcot-marie-tooth neuropathy month download article/chapter 2-bp deletional mutation related subjects peripheral nervous system full article pdf privacy choices/manage cookies dejerine-sottas disease nucleotide position636 leading putative transmembrane domains akita city hospital yoshihito ishihara check access instant access european economic area hereditary neuropathy conditions privacy policy akita university school frame-shifted translation article ikegami accepting optional cookies takasumi matsuki yasuo fukuuchi takahiro amano itaru toyoshima yamagata university school fukui medical university keio university school pmp22 point mutations main content log cysteine substitution journal finder publish article log masahiro aoyama hiroyuki endoh compact myelin hayasaka department nucleotide positions426 article cite tsuyoshi imota affiliations department pmp22 gene privacy policy personal data books a optional cookies manage preferences membrane glycoprotein guanine hiroyuki ikeda

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         headline:Novel mutations of the peripheral myelin protein22 gene in two pedigrees with Dejerine-Sottas disease
         description: Peripheral myelin protein22 (PMP22), a membrane glycoprotein, plays a significant role in the formation and/or maintenance of compact myelin in the peripheral nervous system. We studied two pedigrees with Dejerine-Sottas disease and identified two novel mutations in the PMP22 gene: one a 2-bp deletional mutation at nucleotide positions426 and 427 of exon4 (this is predicted to alter the reading frame at leucine80 and thus to lead to frame-shifted translation), and the other a guanine to thymine substitution at nucleotide position636 leading to a cysteine substitution for glycine150. Both mutations were located in the putative transmembrane domains reported in many cases of Charcot-Marie-Tooth neuropathy, Dejerine-Sottas disease, and hereditary neuropathy with liability to pressure palsies. The results suggest an important role for the putative transmembrane domains of PMP22 in its function.
         datePublished:
         dateModified:
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         pageEnd:298
         sameAs:https://doi.org/10.1007/s004390050694
         keywords:
            Nucleotide
            Cysteine
            Neuropathy
            Guanine
            Deletional Mutation
            Human Genetics
            Molecular Medicine
            Gene Function
            Metabolic Diseases
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                        name:Department of Pediatrics, Yamagata University School of Medicine, Yamagata 990–23, Japan Fax: +81-236-28-5332, , JP
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      headline:Novel mutations of the peripheral myelin protein22 gene in two pedigrees with Dejerine-Sottas disease
      description: Peripheral myelin protein22 (PMP22), a membrane glycoprotein, plays a significant role in the formation and/or maintenance of compact myelin in the peripheral nervous system. We studied two pedigrees with Dejerine-Sottas disease and identified two novel mutations in the PMP22 gene: one a 2-bp deletional mutation at nucleotide positions426 and 427 of exon4 (this is predicted to alter the reading frame at leucine80 and thus to lead to frame-shifted translation), and the other a guanine to thymine substitution at nucleotide position636 leading to a cysteine substitution for glycine150. Both mutations were located in the putative transmembrane domains reported in many cases of Charcot-Marie-Tooth neuropathy, Dejerine-Sottas disease, and hereditary neuropathy with liability to pressure palsies. The results suggest an important role for the putative transmembrane domains of PMP22 in its function.
      datePublished:
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         Nucleotide
         Cysteine
         Neuropathy
         Guanine
         Deletional Mutation
         Human Genetics
         Molecular Medicine
         Gene Function
         Metabolic Diseases
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            name:Tohru Ikegami
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                  address:
                     name:Department of Pediatrics, Yamagata University School of Medicine, Yamagata 990–23, Japan Fax: +81-236-28-5332, , JP
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            name:Hiroyuki Ikeda
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                     name:Department of Pediatrics, Yamagata University School of Medicine, Yamagata 990–23, Japan Fax: +81-236-28-5332, , JP
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                     type:PostalAddress
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            name:Takasumi Matsuki
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                     name:Department of Forensic Medicine, Fukui Medical University, Fukui, Japan, , JP
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            name:Tsuyoshi Imota
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