Novel mutations in the thymidine kinase 2 gene (TK2) associated with fatal mitochondrial myopathy and mitochondrial DNA depletion

Neuromuscular Disorders

Volumn 15, Issue 6, 2005, Pages 412-415

  Tulinius, Már ^a   Moslemi, Ali Reza ^b   Darin, Niklas ^a   Holme, Elisabeth ^b   Oldfors, Anders ^b  

^a QUEEN SILVIA CHILDREN'S HOSPITAL   (Sweden)

^b SAHLGRENSKA UNIVERSITY HOSPITAL   (Sweden)

Author keywords

Children; Infants; Mitochondrial DNA depletion; Mitochondrial myopathy; Thymidine kinase 2

Indexed keywords

AMINO ACID; ARGININE; METHIONINE; THREONINE; THYMIDINE KINASE; TRYPTOPHAN;

AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; EXON; FEMALE; GENE MUTATION; GENE SEQUENCE; HETEROZYGOSITY; HUMAN; MISSENSE MUTATION; MITOCHONDRIAL DNA DEPLETION SYNDROME; MITOCHONDRIAL MYOPATHY; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL;

AMINO ACID SEQUENCE; BIOPSY; DNA, MITOCHONDRIAL; FATAL OUTCOME; FEMALE; HETEROZYGOTE; HUMANS; INFANT; MITOCHONDRIAL MYOPATHIES; MOLECULAR SEQUENCE DATA; PHENOTYPE; SIBLINGS; THYMIDINE KINASE;

EID: 19344362429     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2005.03.010     Document Type: Article

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