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GENATLAS PHENOTYPE

last update : 24-01-2014

Symbol	MPEI1
Location	12q23.3
Name	myopathy, with progressive exercice intolerance 1
Other name(s)	myopathy with lactic acidosis, hereditary
Corresponding gene	ISCU
Other symbol(s)	HML
Main clinical features	lifelong exercise intolerance with symptoms of muscle fatigue, shortness of breath, and tachycardia with minor levels of physical exertion, associated with episodes of myoglobinuria
Genetic determination	autosomal recessive
Related entries	including myopathy with deficiency of succinate dehydrogenase and aconitase
Function/system disorder
Type	disease

Remark(s)

associated with a decrease in the iron regulatory protein IRP1 and intracellular iron overload in skeletal muscle, consistent with a muscle-specific alteration of iron homeostasis mutation observed in the patients results in aberrant splicing of the ISCU RNA, thereby resulting in a dysfunctional IscU protein with an incorrect C-terminal 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, and PTBP1 was found to repress the defective splicing of ISCU, resulting in a drastic loss of mutant transcripts (PMID: 22125086))