SLC25A32 Mutations and Riboflavin-Responsive Exercise Intolerance
SLC25A32 Mutations and Riboflavin-Responsive Exercise Intolerance
About this item
Full title
Author / Creator
Publisher
United States: Massachusetts Medical Society
Journal title
Language
English
Formats
Publication information
Publisher
United States: Massachusetts Medical Society
Subjects
More information
Scope and Contents
Contents
A patient with late-onset exercise intolerance had haploinsufficiency of
SLC25A32,
which encodes the human mitochondrial flavin adenine dinucleotide transporter. The patient's symptoms were highly responsive to oral supplementation with riboflavin.
To the Editor:
Multiple acyl–coenzyme A dehydrogenation deficiency is an inborn error of...
Alternative Titles
Full title
SLC25A32 Mutations and Riboflavin-Responsive Exercise Intolerance
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Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4867164
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4867164
Other Identifiers
ISSN
0028-4793
E-ISSN
1533-4406
DOI
10.1056/NEJMc1513610
