Atypical presentation of Leigh syndrome associated with a Leber hereditary optic neuropathy primary mitochondrial DNA mutation

Molecular Genetics and Metabolism

Volumn 103, Issue 2, 2011, Pages 153-160

  Fruhman, Gary ^a   Landsverk, Megan L ^a   Lotze, Timothy E ^a   Hunter, Jill V ^a   Wangler, Michael F ^a   Adesina, Adekunle M ^a   Wong, Lee Jun C ^a   Scaglia, Fernando ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

Atypical Leigh syndrome; Leber hereditary optic neuropathy; Mitochondrial DNA mutation; Phenotypic variation

Indexed keywords

MITOCHONDRIAL DNA;

ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; FEMALE; HUMAN; LEBER HEREDITARY OPTIC NEUROPATHY; LEIGH DISEASE; NEURORADIOLOGY; NUCLEOTIDE SEQUENCE; ONSET AGE; POINT MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; VISUAL IMPAIRMENT;

CHILD, PRESCHOOL; DNA, MITOCHONDRIAL; ELECTRON TRANSPORT CHAIN COMPLEX PROTEINS; FEMALE; GENE EXPRESSION REGULATION, ENZYMOLOGIC; HUMANS; LEIGH DISEASE; MAGNETIC RESONANCE IMAGING; MAGNETIC RESONANCE SPECTROSCOPY; MUSCLE, SKELETAL; MUTATION; OPTIC ATROPHY, HEREDITARY, LEBER; POLYMORPHISM, GENETIC;

EID: 79956288219     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2011.02.014     Document Type: Article

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