POLG mutation in a patient with cataracts, early-onset distal muscle weakness and atrophy, ovarian dysgenesis and 3-methylglutaconic aciduria

Gene

Volumn 499, Issue 1, 2012, Pages 209-212

  Bekheirnia, Mir Reza ^a   Zhang, Wei ^a   Eble, Tanya ^a   Willis, Alecia ^a   Shaibani, Aziz ^a,b   Wong, Lee Jun C ^a   Scaglia, Fernando ^a   Dhar, Shweta U ^a,b  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b Nerve and Muscle Center of Texas   (United States)

Author keywords

3 Methylglutaconic aciduria; Cataracts; Muscle weakness; Ovarian dysgenesis; POLG

Indexed keywords

3 METHYLGLUTACONIC ACID; DNA DIRECTED DNA POLYMERASE GAMMA;

ACIDURIA; ADULT; ARTICLE; CASE REPORT; CATARACT; DISORDERS OF MITOCHONDRIAL FUNCTIONS; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; HETEROZYGOSITY; HUMAN; OVARY DISEASE; OVARY DYSGENESIS; PRIORITY JOURNAL; PROGRESSIVE MUSCULAR ATROPHY; PUBERTY;

AGE OF ONSET; AMINO ACID METABOLISM, INBORN ERRORS; CATARACT; DNA MUTATIONAL ANALYSIS; DNA-DIRECTED DNA POLYMERASE; FEMALE; GLUTARATES; HUMANS; MODELS, MOLECULAR; MUSCLE WEAKNESS; MUSCULAR ATROPHY; MUTATION; OVARIAN DISEASES; OVARY; YOUNG ADULT;

EID: 84862806813     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2012.02.034     Document Type: Article

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