Long-term outcome of leigh syndrome caused by the NARP-T8993C mtDNA mutation

American Journal of Medical Genetics, Part A

Volumn 143, Issue 17, 2007, Pages 2046-2051

  Debray, Francois Guillaume ^a   Lambert, Marie ^a   Lortie, Anne ^a   Vanasse, Michel ^a   Mitchell, Grant A ^a  

^a UNIVERSITY OF MONTREAL   (Canada)

Author keywords

ATPase 6; Leigh syndrome; Long term outcome; NARP

Indexed keywords

METHYLPHENIDATE; MITOCHONDRIAL DNA; NUCLEOTIDE;

ADULT; ARTICLE; ATAXIA; ATTENTION DEFICIT DISORDER; BLOOD CHEMISTRY; CASE REPORT; COMPUTER ASSISTED TOMOGRAPHY; DNA DETERMINATION; GENE MUTATION; HUMAN; LEIGH DISEASE; LEUKOCYTE; MALE; MUSCLE WEAKNESS; NERVE CONDUCTION; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; NYSTAGMUS; OPHTHALMOPLEGIA; PRIORITY JOURNAL; PTOSIS; RESPIRATORY DISTRESS; SOMNOLENCE; SPEECH THERAPY; STRIDOR; STUTTERING; TACHYPNEA; TENDON REFLEX; ADOLESCENT; DISEASE SEVERITY; FOLLOW UP; GENETIC COUNSELING; HETEROPLASMY; HUMAN CELL; NARP SYNDROME; NERVE DEGENERATION; NEUROLOGIC DISEASE; OUTCOME ASSESSMENT; PERIPHERAL NEUROPATHY; PHENOTYPE; RETINOPATHY; SYMPTOMATOLOGY;

EID: 34548329866     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31880     Document Type: Article

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