Somatic mosaicism for PDHA1 mutation in a male with pyruvate dehydrogenase complex deficiency

Molecular Genetics and Metabolism

Volumn 100, Issue 3, 2010, Pages 296-299

  Coughlin II, Curtis R ^a   Krantz, Ian D ^a,b   Schmitt, Eric S ^c   Zhang, Shulin ^c   Wong, Lee Jun C ^c   Kerr, Douglas S ^d   Ganesh, Jaya ^a,b  

^a CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^b UNIVERSITY OF PENNSYLVANIA   (United States)

^c BAYLOR COLLEGE OF MEDICINE   (United States)

^d CASE WESTERN RESERVE UNIVERSITY   (United States)

Author keywords

Lactic acidosis; Mosaicism; PDHA1; Pyruvate dehydrogenase complex deficiency

Indexed keywords

PYRUVATE DEHYDROGENASE COMPLEX;

ARTICLE; BINOCULAR VISION; BLOOD ANALYSIS; BRAIN ATROPHY; BRAIN STEM; BRAIN THIRD VENTRICLE; BRAIN VENTRICLE DILATATION; CASE REPORT; CHILD; CONVERGENT STRABISMUS; CORPUS CALLOSUM; DEVELOPMENTAL DISORDER; DISEASE SEVERITY; ENZYME SUBUNIT; FACE DYSMORPHIA; FAILURE TO THRIVE; GENE MUTATION; GENE SEQUENCE; HUMAN; LATERAL BRAIN VENTRICLE; MALE; MOSAICISM; OPTIC CHIASM; PATIENT REFERRAL; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY; SPASTICITY; WHITE MATTER;

AMINO ACID SUBSTITUTION; BASE SEQUENCE; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, X; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; MALE; MOSAICISM; MUTATION, MISSENSE; PHENOTYPE; PYRUVATE DEHYDROGENASE (LIPOAMIDE); PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY DISEASE;

EID: 77953028581     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2010.04.004     Document Type: Article

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