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1 Possible Causes for SANDO Is a Phenotypic Variant of Autosomal Recessive PEO

  • Autosomal Recessive Progressive External Ophthalmoplegia

    Whole-exome sequencing using next-generation technologies has been previously demonstrated to be able to detect rare disease-causing variants. Progressive external ophthalmoplegia (PEO) is an inherited mitochondrial disease that follows either autosomal dominant or recessive forms of inheritance (adPEO or arPEO).[…][ncbi.nlm.nih.gov]

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