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Autosomal recessive progressive external ophthalmoplegia
- ... PEOA1 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1; PEOB1 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 2; PEOA2 ...
- ... pump blood. This disorder is inherited in an autosomal recessive pattern, ... ophthalmoplegia (described above), the mutations result in deletions of ...
- ... This Health Condition MedlinePlus Genetics provides information about Progressive external ophthalmoplegia More ... of SPG7 PubMed SPG7 ...
- ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy ... Genetic Testing Registry: Gaze palsy, familial ...
- ... Suomalainen A, Spelbrink JN. Twinkle mutations associated with autosomal dominant progressive external ophthalmoplegia lead to impaired helicase function and in vivo ...
- ... RYR1 SELENON This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ... variants. The parents of an individual with an autosomal recessive condition each carry one copy of the altered ...
- ... of the condition that is inherited in an autosomal recessive pattern, which means both copies of the gene ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated ...
- ... MDS. TK2 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated ...
- National Center for Advancing Translational Sciences ... Eye Diseases/Specifics ... Eye Diseases ... Neuromuscular Disorders/Specifics ... Neuromuscular Disorders ... From the ...
(National Center for Advancing Translational Sciences) 