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A novel HSPB1 mutation associated with a late onset CMT2 phenotype: Case presentation and systematic review of the literature

Taga, Arens ; Cornblath, David R.

Journal of the peripheral nervous system, 2020-09, Vol.25 (3), p.223-229 [Periódico revisado por pares]

Malden, USA: Wiley Periodicals, Inc

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  • Título:
    A novel HSPB1 mutation associated with a late onset CMT2 phenotype: Case presentation and systematic review of the literature
  • Autor: Taga, Arens ; Cornblath, David R.
  • Assuntos: Case reports ; dHMN2 ; Genotype & phenotype ; Genotypes ; heat shock proteins ; hereditary neuropathy ; HSP27 ; Literature reviews ; Mutation ; Neuropathy ; Phenotypes
  • É parte de: Journal of the peripheral nervous system, 2020-09, Vol.25 (3), p.223-229
  • Notas: ObjectType-Case Study-2
    SourceType-Scholarly Journals-1
    ObjectType-Review-3
    content type line 23
    ObjectType-Feature-5
    ObjectType-Undefined-6
    ObjectType-Article-4
    ObjectType-Report-1
  • Descrição: Mutations in the HSPB1 gene are associated with Charcot‐Marie‐Tooth (CMT) disease type 2F (CMT2F) and distal hereditary motor neuropathy type 2 (dHMN2). More than 18 pathogenic mutations spanning across the whole HSPB1 gene have been reported. Three family members with a novel p.P57S (c.169C>T) HSPB1 mutation resulting in a late onset axonal neuropathy with heterogeneous clinical and electrophysiological features are detailed. We systematically reviewed published case reports and case series on HSPB1 mutations. While a genotype‐phenotype correlation was not obvious, we identified a common phenotype, which included adult onset, male predominance, motor more frequently than sensory involvement, distal and symmetric distribution with preferential involvement of plantar flexors, and a motor and axonal electrophysiological picture.
  • Editor: Malden, USA: Wiley Periodicals, Inc
  • Idioma: Inglês
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  • Realização: ABCD-USP USP   Logos de Redes Sociais: Freepik

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