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Academic Journal

Dejerine-Sottas' neuropathy caused by the missense mutation PMP22 Ser72Leu.

  • Authors : Marques W Jr; Department of Neurology, School of Medicine of Ribeirão Preto, University of São Paulo, São Paulo, Brazil. ; Neto JM

Subjects: Axons/Axons/Axons/*pathology ; Hereditary Sensory and Motor Neuropathy/Hereditary Sensory and Motor Neuropathy/Hereditary Sensory and Motor Neuropathy/*genetics ; Myelin Proteins/Myelin Proteins/Myelin Proteins/*genetics

  • Source: Acta neurologica Scandinavica [Acta Neurol Scand] 2004 Sep; Vol. 110 (3), pp. 196-9.Publisher: Wiley-Blackwell Country of Publication: Denmark NLM ID: 0370336 Publication Model: Print Cited Medium: Print ISSN: 0001-6314 (Print)

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Academic Journal

Charcot-Marie-Tooth disease type 1B: marked phenotypic variation of the Ser78Leu mutation in five Italian families

Subjects: Adult; Male; 0301 basic medicine

  • Source: Acta neurologica Scandinavica 118 (2008): 328–332.info:cnr-pdr/source/autori:Mazzeo A, Muglia M, Rodolico C, Toscano A, Patitucci A, Quattrone A, Messina C, Vita

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