Neuromuscular Disorders
Volume 19, Issue 12 , Pages 849-852 , December 2009

Myelin protein zero Val102fs mutation manifesting with isolated spinal root hypertrophy

  • Corrado Marchini

      Affiliations

    • Department of Neurology San Martino’s Hospital, Belluno, Italy
    • ,
  • Sandro Zambito Marsala

      Affiliations

    • Department of Neurology San Martino’s Hospital, Belluno, Italy
    • ,
  • Matteo Bendini

      Affiliations

    • Department of Neuroradiology Ca’Foncello Hospital Treviso, Italy
    • ,
  • Federica Taioli

      Affiliations

    • Department of Biomedical Sciences and Technologies, Section of Genetics, Genetic Institute, Azienda Ospedaliera Universitaria, Udine, Italy
    • ,
  • Giuseppe Damante

      Affiliations

    • Department of Neurological and Visual Sciences, Section of Clinical Neurology, University of Verona, Ospedale Policlinico “G.B. Rossi”, Italy
    • ,
  • Incoronata Renata Lonigro

      Affiliations

    • Department of Neurological and Visual Sciences, Section of Clinical Neurology, University of Verona, Ospedale Policlinico “G.B. Rossi”, Italy
    • ,
  • Gian Maria Fabrizi

      Affiliations

    • Department of Biomedical Sciences and Technologies, Section of Genetics, Genetic Institute, Azienda Ospedaliera Universitaria, Udine, Italy
    • Corresponding Author InformationCorresponding author. Address: Section of Clinical Neurology, Department of Neurological and Visual Sciences, University of Verona. Ospedale Policlinico G.B. Rossi, P.le L.A. Scuro 10, 37134 Verona, Italy. Tel.: +39 045 8124286; fax: +39 045 8027492.

Received 18 May 2009 ,Revised 14 August 2009 ,Accepted 8 September 2009.

References 

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  2. De Angelis MV, Di Muzio A, Capasso M, Angiari C, Cavallaro T, Fabrizi GM, et al. Segmental conduction abnormalities and myelin thickenings in Val102/fs null mutation of MPZ gene. Neurology. 2004;63(11):2180–2183
  3. Grandis M, Vigo T, Passalacqua M, Jain M, Scazzola S, La Padula V, et al. Different cellular and molecular mechanisms for early and late-onset myelin protein zero mutations. Hum Mol Genet. 2008;17(13):1877–1889
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  10. Pareyson D, Testa D, Morbin M, Erbetta A, Ciano C, Lauria G, et al. Does CMT1A homozygosity cause more severe disease with root hypertrophy and higher CSF proteins?. Neurology. 2003;60(10):1721–1722
  11. Simonati A, Fabrizi GM, Taioli F, Polo A, Cerini R, Rizzuto N. Dejerine–Sottas neuropathy with multiple nerve roots enlargement and hypomyelination associated with a missense mutation of the transmembrane domain of MPZ/P0. J Neurol. 2002;249(9):1298–1302
  12. Pytel P, Rezania K, Soliven B, Frank J, Wollmann R. Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) with hypertrophic spinal radiculopathy mimicking neurofibromatosis. Acta Neuropathol. 2003;105(2):185–188
  13. Mizuno K, Nagamatsu M, Hattori N, Yamamoto M, Goto H, Kuniyoshi K, et al. Chronic inflammatory demyelinating polyradiculoneuropathy with diffuse and massive peripheral nerve hypertrophy: distinctive clinical and magnetic resonance imaging features. Muscle Nerve. 1998;21(6):805–808
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PII: S0960-8966(09)00617-8

doi: 10.1016/j.nmd.2009.09.004

Neuromuscular Disorders
Volume 19, Issue 12 , Pages 849-852 , December 2009

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