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Autosomal dominant progressive external ophthalmoplegia
- ... Suomalainen A, Spelbrink JN. Twinkle mutations associated with autosomal dominant progressive external ophthalmoplegia lead to impaired helicase function and in vivo ...
- ... A. A heterozygous truncating mutation in RRM2B causes autosomal-dominant progressive external ophthalmoplegia with multiple mtDNA deletions. Am J Hum Genet. ...
- ... Suomalainen A, Spelbrink JN. Twinkle mutations associated with autosomal dominant progressive external ophthalmoplegia lead to impaired helicase function and in vivo ...
- ... droop (ptosis). When caused by SLC25A4 gene mutations, progressive external ophthalmoplegia is inherited in an autosomal dominant pattern, which means one copy of the gene ...
- ... mutations can also cause a condition known as autosomal dominant optic atrophy ... difficulty with balance and coordination (ataxia), disturbances in ...
- ... of the condition that is inherited in an autosomal dominant pattern, which means one copy of the altered ...
