Mitochondrial dysfunction in Brooks-Wisniewski-Brown syndrome

American Journal of Medical Genetics, Part A

Volumn 140 A, Issue 7, 2006, Pages 752-756

  Morava, Eva ^a   Rodenburg, Richard ^a   Hol, Frans ^a   De Meirleir, Linda ^b   Seneca, Sara ^b   Busch, Rebekka ^c   Van Den Heuvel, Lambert ^a   Smeitink, Jan ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY HOSPITAL BRUSSELS   (Belgium)

^c Hospital Dortmund gGmbH   (Germany)

Author keywords

Entropium; Full supraorbital region; Mitochondrial dysfunction; Optic atrophy; Spastic diplegia

Indexed keywords

ARTICLE; BRAIN DISEASE; BROOKS WISNIEWSKI BROWN SYNDROME; CASE REPORT; CHILD; CORPUS CALLOSUM; DEVELOPMENTAL DISORDER; DISORDERS OF MITOCHONDRIAL FUNCTIONS; GROWTH RETARDATION; HUMAN; HUMAN TISSUE; HYDROCEPHALUS; MALE; MICROCEPHALY; MUSCLE BIOPSY; MUTATIONAL ANALYSIS; OPTIC NERVE ATROPHY; OXIDATIVE PHOSPHORYLATION; PRIORITY JOURNAL; SEIZURE; SPASTIC PARESIS; SPEECH DISORDER; BIOSYNTHESIS; ENZYMOLOGY; EYE MALFORMATION; FATALITY; METABOLISM; MITOCHONDRION; MULTIPLE MALFORMATION SYNDROME; MUSCLE HYPOTONIA; PATHOLOGY; PRESCHOOL CHILD; SIBLING; SYNDROME;

ADENOSINE TRIPHOSPHATE;

ABNORMALITIES, MULTIPLE; ADENOSINE TRIPHOSPHATE; CHILD; CHILD, PRESCHOOL; DEVELOPMENTAL DISABILITIES; EYE ABNORMALITIES; FATAL OUTCOME; HUMANS; MALE; MITOCHONDRIA; MUSCLE HYPOTONIA; OXIDATIVE PHOSPHORYLATION; SIBLINGS; SYNDROME;

EID: 33646934191     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31117     Document Type: Article

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