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Hereditary myopathy with lactic acidosis (HML) is caused by an intron mutation in the iron‐sulfur cluster assembly gene ISCU, which leads to the activation of cryptic splice sites and the retention of part of intron 4. This incorrect splicing is more pronounced in muscle than in other tissues, resulting in a muscle‐specific phenotype. In this study, we identified five nuclear factors that interact...
Hereditary myopathy with lactic acidosis (HML) is caused by an intron mutation in the iron-sulphur cluster assembly gene (ISCU) leading to incorporation of intron sequence into the mRNA. This results in a deficiency of Fe–S cluster proteins, affecting the TCA cycle and the respiratory chain. The proteins involved in the Fe–S machinery are evolutionary conserved and shown to be fundamental in all organisms...
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