Fulminant neurological deterioration in a neonate with Leigh syndrome due to a maternally transmitted missense mutation in the mitochondrial ND3 gene

Biochemical and Biophysical Research Communications

Volumn 334, Issue 2, 2005, Pages 582-587

  Leshinsky Silver, E ^a   Lev, D ^a   Tzofi Berman, Z ^a   Cohen, S ^a   Saada, A ^b   Yanoov Sharav, M ^a   Gilad, E ^a   Lerman Sagie, T ^a  

^a WOLFSON MEDICAL CENTER   (Israel)

^b SHAARE ZEDEK MEDICAL CENTER   (Israel)

Author keywords

Complex I; Leigh; mtDNA; ND3

Indexed keywords

MITOCHONDRIAL DNA;

ARTICLE; BASAL GANGLION; BRAIN STEM; CASE REPORT; CLINICAL FEATURE; DISEASE TRANSMISSION; GENE; GENE MUTATION; GENOMICS; HUMAN; INFANT; LEIGH DISEASE; MALE; MISSENSE MUTATION; MITOCHONDRION; MUSCLE BIOPSY; ND3 GENE; NEUROLOGIC EXAMINATION; PRIORITY JOURNAL; WESTERN BLOTTING;

DNA, MITOCHONDRIAL; ELECTRON TRANSPORT COMPLEX I; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INFANT; INFANT, NEWBORN; LEIGH DISEASE; MALE; MUTATION, MISSENSE; NERVOUS SYSTEM DISEASES; PROTEINS;

EID: 22144483768     PISSN: 0006291X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bbrc.2005.06.134     Document Type: Article

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