Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia
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DOI: 10.1002/humu.23262
Abstract: We report here the first families carrying recessive variants in the MSTO1 gene: compound heterozygous mutations were identified in two sisters and in an unrelated singleton case, who presented a multisystem complex phenotype mainly characterized… read more here.
Keywords: cause mitochondrial; recessive mutations; mutations msto1; msto1 cause ... See more keywords