腺嘌呤核苷酸转运蛋白1抗体

腺嘌呤核苷酸转运蛋白1抗体 Background: Defects in SLC25A4 are a cause of progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 2 (PEOA2) [MIM:609283]. Progressive external ophthalmoplegia is characterized by progressive weakness of ocular muscles and levator muscle of the upper eyelid. In a minority of cases, it is associated with skeletal myopathy, which predominantly involves axial or proximal muscles and which causes abnormal fatigability and even permanent muscle weakness. Ragged-red fibers and atrophy are found on muscle biopsy. A large proportion of chronic ophthalmoplegias are associated with other symptoms, leading to a multisystemic pattern of this disease. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism. Also known as: heart/skeletal muscle isoform T1; Adenine nucleotide translocator 1 (skeletal muscle); Adenine nucleotide translocator 1; ADP; ADP ATP carrier protein 1; ADP ATP carrier protein heart/skeletal muscle isoform T1; ADP/ATP translocase 1; ADT1_HUMAN; ANT 1; ANT; ANT1; ATP carrier protein 1; ATP carrier protein; MSA02; PEO2; PEO3; SLC25A4; Solute carrier family 25 member 4; T1 antibody.腺嘌呤核苷酸转运蛋白1抗体