Oculopharyngeal somatic myopathy in a patient with a novel large-scale 3399 bp deletion and a homoplasmic T5814C transition of the mitochondrial DNA

Clinical Neurology and Neurosurgery

Volumn 108, Issue 4, 2006, Pages 407-410

  Thajeb, Peterus ^a,b   Ma, Yi Shing ^c   Tzen, Chin Yuan ^a   Chuang, Chih Kuang ^a   Wu, Tsu Yen ^a   Chen, Shiu Ching ^a   Wei, Yau Huei ^c  

^a MACKAY MEMORIAL HOSPITAL   (Taiwan)

^b TAIPEI MEDICAL UNIVERSITY   (Taiwan)

^c NATIONAL YANG MING UNIVERSITY   (Taiwan)

Author keywords

Large scale deletion; Mitochondrial DNA; Mitochondrial myopathy; Mutation; Oculopharyngeal somatic myopathy; Polymorphism; tRNACys

Indexed keywords

CYTOCHROME C OXIDASE; LACTIC ACID; MITOCHONDRIAL DNA; PYRUVIC ACID; THYMIDINE; UBIDECARENONE;

AGED; ARTICLE; BULBAR PARALYSIS; CASE REPORT; CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA; CONTROLLED STUDY; ELECTRON MICROSCOPY; ENZYME ACTIVITY; FEMALE; GENE DELETION; GENE SEQUENCE; HUMAN; HUMAN TISSUE; LEUKOCYTE; MITOCHONDRIAL GENETICS; MITOCHONDRIAL MYOPATHY; MUSCLE BIOPSY; NECK MUSCLE; NUCLEOTIDE SEQUENCE; OCULOPHARYNGEAL MUSCULAR DYSTROPHY; PARALYSIS; RESPIRATORY FAILURE;

AGED; BIOPSY; DISEASE PROGRESSION; DNA, MITOCHONDRIAL; ELECTROMYOGRAPHY; FATAL OUTCOME; FEMALE; GENE DELETION; HORNER SYNDROME; HUMANS; MUSCLE, SKELETAL; OPHTHALMOPLEGIA, CHRONIC PROGRESSIVE EXTERNAL; PHARYNGEAL DISEASES; POINT MUTATION; POLYMORPHISM, GENETIC; RNA, TRANSFER;

EID: 33646089407     PISSN: 03038467     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.clineuro.2005.01.004     Document Type: Article

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