A new mitochondrial point mutation in the transfer RNALeu gene in a patient with a clinical phenotype resembling Kearns-Sayre syndrome

Archives of Neurology

Volumn 58, Issue 7, 2001, Pages 1113-1118

  Seneca, Sara ^a,d   Verhelst, Helene ^b   De Meirleir, Linda ^a   Meire, Françoise ^b   Ceuterick De Groote, Chantal ^c   Lissens, Willy ^a   Van Coster, Rudy ^b  

^a VRIJE UNIVERSITEIT BRUSSEL   (Belgium)

^b GHENT UNIVERSITY HOSPITAL   (Belgium)

^c UNIVERSITY OF ANTWERP   (Belgium)

^d UNIVERSITY HOSPITAL BRUSSELS   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; CYTOCHROME C OXIDASE; GLYCINE; LEUCINE; MITOCHONDRIAL DNA; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); TRANSFER RNA;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CLINICAL FEATURE; CONTROLLED STUDY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; ENZYME ACTIVITY; HUMAN; HUMAN TISSUE; KEARNS SAYRE SYNDROME; LEUKOCYTE; MALE; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; SKELETAL MUSCLE;

EID: 0034943837     PISSN: 00039942     EISSN: None     Source Type: Journal    
DOI: 10.1001/archneur.58.7.1113     Document Type: Article

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