Novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia and multisystem failure

Neuromuscular Disorders

Volumn 19, Issue 12, 2009, Pages 845-848

  Bohlega, S ^a   Van Goethem, G ^b,c,d   Al Semari, A ^a   Lofgren A ^c,d,e   Al Hamed, M ^a   Van Broeckhoven, C ^c,d,e   Kambouris, M ^a  

^a KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^b ANTWERP UNIVERSITY HOSPITAL   (Belgium)

^c UNIVERSITY OF ANTWERP   (Belgium)

^d DEPARTMENT OF PLANT SYSTEMS BIOLOGY   (Belgium)

^e UNIVERSITY OF ANTWERP   (Belgium)

Author keywords

adPEO; mtDNA; Mutation; PEO; PEO1; Twinkle gene

Indexed keywords

GLYCINE; LEUCINE; MITOCHONDRIAL DNA; MITOCHONDRIAL PROTEIN; TWINKLE PROTEIN; UNCLASSIFIED DRUG;

ADULT; AGED; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CARDIOMYOPATHY; CASE REPORT; CHRONIC KIDNEY FAILURE; CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA; CONTROLLED STUDY; DEPRESSION; DIABETES MELLITUS; DISORDERS OF MITOCHONDRIAL FUNCTIONS; FEMALE; HEART BLOCK; HEART FAILURE; HETEROZYGOSITY; HOSPITAL READMISSION; HUMAN; HYPOTHYROIDISM; INTENSIVE CARE; METABOLIC ENCEPHALOPATHY; MULTIPLE ORGAN FAILURE; MUSCLE BIOPSY; MUSCLE WEAKNESS; OBESITY; OPHTHALMOPLEGIA; PRIORITY JOURNAL; PTOSIS; REAL TIME POLYMERASE CHAIN REACTION; RESPIRATORY FAILURE; SAUDI ARABIA; SICK SINUS SYNDROME; SOUTHERN BLOTTING; WALKING DIFFICULTY;

ADULT; AGE OF ONSET; AGED; AMINO ACID SUBSTITUTION; DNA HELICASES; DNA, MITOCHONDRIAL; FAMILY; FEMALE; HUMANS; MIDDLE AGED; MULTIPLE ORGAN FAILURE; MUTATION; OPHTHALMOPLEGIA, CHRONIC PROGRESSIVE EXTERNAL; PEDIGREE; PHENOTYPE; SAUDI ARABIA; SEQUENCE DELETION;

EID: 70449518025     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2009.10.002     Document Type: Article

References (10)

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