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3 Possible Causes for Mutation in the Chromosome 10 Open Reading Frame 2 Gene

  • Ophthalmoplegia

    PEO has been associated with mutations in nuclear gene, chromosome 10 open reading frame 2 ( C10orf2 ) or PEO1.[cysonline.org] The gene is located on chromosome 10 and encodes mtDNA maintenance protein Twinkle, which co-localize with mitochondrial nucleoid. [4] A number of mutations so far identified[cysonline.org] PEO is a rare neuromuscular disease ( ) with heterogeneous clinical symptoms [2] and has no therapy as it affects a small number of human population.[cysonline.org]

  • Autosomal Recessive Progressive External Ophthalmoplegia

    10 open reading frame 2), rrm2b (ribonucleotide reductase regulatory TP53 inducible subunit M2B) and SLC25A4 (solute carrier family 25 member 4), among others.[ivami.com] In some cases, mutations in nuclear DNA are responsible for disease, including mutations in the POLG gene (Polymerase (DNA) gamma, catalytic subunit), C10orf2 (chromosome[ivami.com] This may be due to mutations in one of several different genes.[ivami.com]

  • Autosomal Dominant Progressive External Ophthalmoplegia

    10 open reading frame 2), rrm2b (ribonucleotide reductase regulatory TP53 inducible subunit M2B) and SLC25A4 (solute carrier family 25 member 4), among others.[ivami.com] In some cases, mutations in nuclear DNA are responsible for disease, including mutations in the POLG gene (Polymerase (DNA) gamma, catalytic subunit), C10orf2 (chromosome[ivami.com] This may be due to mutations in one of several different genes.[ivami.com]

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