Genotype-Phenotype Correlation of 12S-rRNA and 16S-rRNA Variants with CPEO Plus is Unproven
نویسندگان
چکیده
منابع مشابه
Mitochondrial mutations in 12S rRNA and 16S rRNA presenting as chronic progressive external ophthalmoplegia (CPEO) plus
RATIONALE Chronic progressive external ophthalmoplegia (CPEO) is a classical mitochondrial ocular disorder characterized by bilateral progressive ptosis and ophthalmoplegia. Kearns -Sayre syndrome (KSS) is a multisystem disorder with PEO, cardiac conduction block, and pigmentary retinopathy. A few individuals with CPEO have other manifestations of KSS, but do not meet all the clinical diagnosis...
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ژورنال
عنوان ژورنال: Open Access Journal of Internal Medicine
سال: 2018
ISSN: 2638-5279
DOI: 10.22259/2638-5279.0101002