Progressive myofiber loss with extensive fibro-fatty replacement in a child with mitochondrial DNA depletion syndrome and novel thymidine kinase 2 gene mutations

Neuromuscular Disorders

Volumn 19, Issue 11, 2009, Pages 784-787

  Collins, James ^a   Bove, Kevin E ^a   Dimmock, David ^b   Morehart, Paula ^a   Wong, Lee Jun ^b   Wong, Brenda ^a  

^a CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

^b BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

Mitochondrial DNA depletion syndrome; Myopathy; Respiratory chain; Thymidine kinase 2

Indexed keywords

MITOCHONDRIAL DNA; THYMIDINE KINASE;

ADOLESCENT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHILD; FEMALE; FRAMESHIFT MUTATION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENOTYPE; HETEROZYGOSITY; HUMAN; HUMAN TISSUE; MALE; MISSENSE MUTATION; MITOCHONDRIAL DNA DEPLETION SYNDROME; MUSCLE BIOPSY; MUSCLE WEAKNESS; MUSCULAR DYSTROPHY; PHENOTYPE; PRIORITY JOURNAL; SCHOOL CHILD; SEQUENCE ANALYSIS;

ADOLESCENT; ADULT; CHILD; DNA, MITOCHONDRIAL; FEMALE; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; METABOLISM, INBORN ERRORS; MITOCHONDRIAL MYOPATHIES; MUSCLE, SKELETAL; MUTATION; THYMIDINE KINASE;

EID: 70350044667     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2009.08.002     Document Type: Article

References (10)

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