A near homoplasmic T8993G mtDNA mutation in a patient with atypic Leigh syndrome not present in the mother's tissues

Journal of Inherited Metabolic Disease

Volumn 20, Issue 1, 1997, Pages 49-53

  Degoul, F ^a   Francois D ^a   Diry, M ^a   Ponsot, G ^b   Desguerre, I ^b   Heron B ^b   Marsac, C ^a   Moutard, M L ^a,b  

^a INSERM   (France)

^b HÔPITAL SAINT VINCENT DE PAUL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA;

CASE REPORT; DEVELOPMENTAL DISORDER; FEMALE; GENE MUTATION; HUMAN; LEIGH DISEASE; MUSCLE; MYOCLONUS; NUCLEAR MAGNETIC RESONANCE IMAGING; PRESCHOOL CHILD; RETINOPATHY; REVIEW;

CHILD, PRESCHOOL; DNA, MITOCHONDRIAL; FEMALE; GUANINE; HUMANS; LEIGH DISEASE; MOTHERS; POINT MUTATION; THYMINE;

EID: 0031049518     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005357506614     Document Type: Review

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