Clinical phenotype of autosomal dominant progressive external ophthalmoplegia in a family with a novel mutation in the C10orf2 gene

Muscle and Nerve

Volumn 41, Issue 1, 2010, Pages 92-99

  Hong, Daojun ^a   Bi, Hongyan ^b   Yao, Sheng ^a   Wang, Zhaoxia ^a   Yuan, Yun ^a  

^a PEKING UNIVERSITY FIRST HOSPITAL   (China)

^b CAPITAL MEDICAL UNIVERSITY   (China)

Author keywords

Autosomal dominant; C10orf2 gene; Cardiac abnormality; Mitochondrion; Progressive external ophthalmoplegia

Indexed keywords

CYTOCHROME C OXIDASE; MITOCHONDRIAL DNA;

ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT DISORDER; C10ORF2 GENE; CHINESE; CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA; CLINICAL ARTICLE; CLINICAL FEATURE; DYSPHAGIA; FEMALE; GENE; HEART DISEASE; HUMAN; HUMAN TISSUE; LIMB WEAKNESS; MALE; MISSENSE MUTATION; MITOCHONDRIAL MYOPATHY; MUSCLE BIOPSY; PHENOTYPE; PRIORITY JOURNAL; PTOSIS;

ADULT; AGED; BIOPSY; BLOTTING, SOUTHERN; DNA; DNA HELICASES; FEMALE; HUMANS; IMMUNOHISTOCHEMISTRY; MALE; MIDDLE AGED; MUSCLE, SKELETAL; MUTATION, MISSENSE; OPHTHALMOPLEGIA, CHRONIC PROGRESSIVE EXTERNAL; PHENOTYPE; POLYMERASE CHAIN REACTION;

EID: 73949115770     PISSN: 0148639X     EISSN: 10974598     Source Type: Journal    
DOI: 10.1002/mus.21439     Document Type: Article

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