Twinkle mutations in two Chinese families with autosomal dominant progressive external ophthalmoplegia

Neurological Sciences

Volumn 35, Issue 3, 2014, Pages 443-448

  Ji, Kunqian ^a   Liu, Kaiming ^a   Lin, Pengfei ^a   Wen, Bing ^a   Luo, Yue Bei ^a   Zhao, Yuying ^a   Yan, Chuanzhu ^a,b  

^a SHANDONG UNIVERSITY   (China)

^b SHANDONG UNIVERSITY   (China)

Author keywords

A475P; Autosomal dominant progressive external ophthalmoplegia; Chinese population; PEO; R354P; Twinkle

Indexed keywords

CELL NUCLEUS DNA;

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CHINESE; CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA; CLINICAL FEATURE; DISORDERS OF MITOCHONDRIAL FUNCTIONS; FEMALE; FIBROBLAST; GENE; GENE DELETION; GENE MUTATION; HISTOCHEMISTRY; HUMAN; MALE; MOLECULAR GENETICS; MUSCLE; PEDIGREE; POINT MUTATION; TWINKLE GENE;

ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; DNA HELICASES; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; HUMANS; MALE; MIDDLE AGED; MITOCHONDRIAL PROTEINS; MUSCLE, SKELETAL; OPHTHALMOPLEGIA, CHRONIC PROGRESSIVE EXTERNAL; POINT MUTATION;

EID: 84896816962     PISSN: 15901874     EISSN: 15903478     Source Type: Journal    
DOI: 10.1007/s10072-013-1557-8     Document Type: Article

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