A novel CHCHD10 mutation implicates a Mia40‐dependent mitochondrial import deficit in ALS
A novel CHCHD10 mutation implicates a Mia40‐dependent mitochondrial import deficit in ALS
About this item
Full title
Author / Creator
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
Formats
Publication information
Publisher
London: Nature Publishing Group UK
Subjects
More information
Scope and Contents
Contents
CHCHD10
mutations are linked to amyotrophic lateral sclerosis, but their mode of action is unclear. In a 29‐year‐old patient with rapid disease progression, we discovered a novel mutation (Q108P) in a conserved residue within the coiled‐coil‐helix‐coiled‐coil‐helix (CHCH) domain. The aggressive clinical phenotype prompted us to probe its pathoge...
Alternative Titles
Full title
A novel CHCHD10 mutation implicates a Mia40‐dependent mitochondrial import deficit in ALS
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_e5c50d6c5b4645e99a546abfbbb506e9
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_e5c50d6c5b4645e99a546abfbbb506e9
Other Identifiers
ISSN
1757-4676
E-ISSN
1757-4684
DOI
10.15252/emmm.201708558
