Early and late manifestations of neuropathy due to HSPB1 mutation in the Jewish Iranian population
Early and late manifestations of neuropathy due to HSPB1 mutation in the Jewish Iranian population
About this item
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Publisher
United States: John Wiley and Sons Inc
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Language
English
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Publisher
United States: John Wiley and Sons Inc
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Scope and Contents
Contents
Objective
Mutations in the HSPB1 gene are associated with a distal hereditary motor neuropathy type 2 (dHMN2) or Charcot‐Marie‐Tooth disease type 2F (CMT2F), usually with autosomal dominant inheritance. This study aimed to describe the phenotype of the HSPB1 c.407G>T (p.Arg136Leu) mutation at early and late stages of the disease course.
Metho...
Alternative Titles
Full title
Early and late manifestations of neuropathy due to HSPB1 mutation in the Jewish Iranian population
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Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_dd5597ef35844c088b00410a5cdcd5a6
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_dd5597ef35844c088b00410a5cdcd5a6
Other Identifiers
ISSN
2328-9503
E-ISSN
2328-9503
DOI
10.1002/acn3.51362
