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GENATLAS PHENOTYPE

last update : 14-10-2013

Symbol	MTDPS12
Location	4q35.1
Name	mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)
Corresponding gene	SLC25A4
Main clinical features	mitochondrial disorder characterized by childhood onset of slowly progressive hypertrophic cardiomyopathy and generalized skeletal myopathy resulting in exercise intolerance with muscle weakness and atrophy skeletal muscle biopsy shows ragged red fibers, mtDNA depletion, and accumulation of abnormal mitochondria including dominant forms with severe congenital hypotonia and profound muscle weakness necessitating artificial ventilation, and death in early infancy (PMID: 27693233))
Genetic determination	autosomal recessive
	autosomal dominant
Function/system disorder	cardiovascular
	neuromuscular
Type	disease

Remark(s)

c.239G>A mutation predicted to substitute the arginine at position 80 to a histidine and three further subjects had a c.703C>G mutation predicted to substitute arginine 235 for a glycine residue are associated to lethal forms (PMID: 27693233))