Nemaline rods and complex I deficiency in three infants with hypotonia, motor delay and failure to thrive

Neuropediatrics

Volumn 35, Issue 5, 2004, Pages 302-306

  Lamont, P J ^a   Thorburn, D R ^b   Fabian, V ^a   Vajsar, J ^c   Hawkins, C ^c   Saada, A ^d   Durling, H ^a   Laing, N C ^a   Nevo, Y ^e  

^a ROYAL PERTH HOSPITAL   (Australia)

^b UNIVERSITY OF MELBOURNE   (Australia)

^c HOSPITAL FOR SICK CHILDREN   (Canada)

^d SHAARE ZEDEK MEDICAL CENTER   (Israel)

^e TEL AVIV UNIVERSITY   (Israel)

Author keywords

Complex I deficiency; Developmental delay; Nemaline rods

Indexed keywords

REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE);

ARTICLE; CASE REPORT; CHEMICAL ANALYSIS; CHILD; COMPLEX 1 DEFICIENCY; DEVELOPMENTAL DISORDER; DISEASE ASSOCIATION; ENZYME DEFICIENCY; FAILURE TO THRIVE; FEMALE; GENETIC DISORDER; HUMAN; HUMAN TISSUE; MALE; MOTOR DYSFUNCTION; MUSCLE BIOPSY; MUSCLE HYPOTONIA; NEMALINE MYOPATHY; PRIORITY JOURNAL; RESPIRATORY CHAIN;

ELECTRON TRANSPORT COMPLEX I; FAILURE TO THRIVE; FEMALE; HUMANS; INFANT, NEWBORN; MALE; MUSCLE HYPOTONIA; MUSCLE WEAKNESS; MYOPATHIES, NEMALINE;

EID: 8844243256     PISSN: 0174304X     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2004-821243     Document Type: Article

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