LRSAM1 and the RING domain: Charcot–Marie–Tooth disease and beyond
LRSAM1 and the RING domain: Charcot–Marie–Tooth disease and beyond
About this item
Full title
Author / Creator
Publisher
England: BioMed Central Ltd
Journal title
Language
English
Formats
Publication information
Publisher
England: BioMed Central Ltd
Subjects
More information
Scope and Contents
Contents
In the past decade, mutations in
LRSAM1
were identified as the genetic cause of both dominant and recessive forms of axonal CMT type 2P (CMT2P). Despite demonstrating different inheritance patterns, dominant CMT2P is usually characterized by relatively mild, slowly progressive axonal neuropathy, mainly involving lower limbs, with age of onset...
Alternative Titles
Full title
LRSAM1 and the RING domain: Charcot–Marie–Tooth disease and beyond
Authors, Artists and Contributors
Author / Creator
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_ce39a702080648d289723b9620a8e877
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_ce39a702080648d289723b9620a8e877
Other Identifiers
ISSN
1750-1172
E-ISSN
1750-1172
DOI
10.1186/s13023-020-01654-8
