Title : Myopathy with lactic acidosis is linked to chromosome 12q23.3-24.11 and caused by an intron mutation in the ISCU gene resulting in a splicing defect.

Pub. Date : 2008 Jun 1

PMID : 18296749






1 Functional Relationships(s)
Download
Sentence
Compound Name
Protein Name
Organism
1 The 1.6-Mb disease-critical region contained one obvious candidate gene-ISCU-specifying a protein involved in iron-sulphur cluster assembly. Iron iron-sulfur cluster assembly enzyme Homo sapiens