Ontology highlight
ABSTRACT:
SUBMITTER: Mochel F
PROVIDER: S-EPMC2427212 | biostudies-literature | 2008 Mar
REPOSITORIES: biostudies-literature
Mochel Fanny F Knight Melanie A MA Tong Wing-Hang WH Hernandez Dena D Ayyad Karen K Taivassalo Tanja T Andersen Peter M PM Singleton Andrew A Rouault Tracey A TA Fischbeck Kenneth H KH Haller Ronald G RG
American journal of human genetics 20080214 3
A myopathy with severe exercise intolerance and myoglobinuria has been described in patients from northern Sweden, with associated deficiencies of succinate dehydrogenase and aconitase in skeletal muscle. We identified the gene for the iron-sulfur cluster scaffold protein ISCU as a candidate within a region of shared homozygosity among patients with this disease. We found a single mutation in ISCU that likely strengthens a weak splice acceptor site, with consequent exon retention. A marked reduc ...[more]