External ophthalmoplegia with severe progressive multiorgan involvement associated with the mtDNA A3243G mutation

Journal of the Neurological Sciences

Volumn 197, Issue 1-2, 2002, Pages 63-67

  Hansrote, Sun ^a   Croul, Sidney ^a   Selak, Mary ^b   Kalman, Bernadette ^a   Schwartzman, Robert J ^a  

^a DREXEL UNIVERSITY COLLEGE OF MEDICINE   (United States)

^b UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

CPEO; Mitochondrial disease; Phenotypic heterogeneity; Point mutation

Indexed keywords

MITOCHONDRIAL DNA;

ADULT; ARTICLE; AUTOSOMAL DISORDER; CARDIOMYOPATHY; CASE REPORT; CATARACT; DIABETES MELLITUS; DISEASE ASSOCIATION; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DNA DETERMINATION; ENDOCRINE DISEASE; EXTERNAL OPHTHALMOPLEGIA; EXTRACHROMOSOMAL INHERITANCE; FAMILY; GENE DELETION; HUMAN; IMMUNOHISTOCHEMISTRY; LEUKOCYTE; MALE; MIGRAINE; MUSCLE BIOPSY; MUTATION; MYOPATHY; PERCEPTION DEAFNESS; PHENOTYPE; PRIORITY JOURNAL; SEIZURE;

ADULT; BIOPSY; DNA, MITOCHONDRIAL; FAMILY HEALTH; HUMANS; MALE; MITOCHONDRIAL DISEASES; MUSCLE, SKELETAL; OPHTHALMOPLEGIA, CHRONIC PROGRESSIVE EXTERNAL; PHENOTYPE; POINT MUTATION;

EID: 0037094054     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0022-510X(02)00048-5     Document Type: Article

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