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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 ...
- Degenerative Nerve Diseases (National Library of Medicine)Degenerative nerve diseases affect many of your body's activities, such as balance, movement, talking, breathing, and heart function. Many of these diseases are genetic. ...
