Title : Differences in RNA processing underlie the tissue specific phenotype of ISCU myopathy.

Pub. Date : 2010 Jun

PMID : 20206689






2 Functional Relationships(s)
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Compound Name
Protein Name
Organism
1 Hereditary myopathy with lactic acidosis, or myopathy with exercise intolerance, Swedish type (OMIM #255125) is caused by mutations in the iron-sulfur cluster scaffold (ISCU) gene. Iron iron-sulfur cluster assembly enzyme Homo sapiens
2 Consistent with the recognised role of ISCU, we found abnormal activities of respiratory chain complexes containing iron-sulfur clusters in patient muscle. Iron iron-sulfur cluster assembly enzyme Homo sapiens