All individuals with variants in gene ATG10

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00105012 25872942-Fam PubMed: Bee 2015, Journal: Bee 2015 2-generation family, affected twin brothers, unaffected heterozygous carrier parents/sister M yes Italy - - 0 - - ? adult-onset progressive encephalocardiomyopathy; see paper; ...; birth-bilateral cryptorchidism, malformations; early adulthood-slowly progressive neurological syndrome, with cerebellar/pyramidal signs, cognitive impairment, depression, dilating cardiomyopathy 1 2 Johan den Dunnen
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