Acquired microcephaly, regression of milestones, mitochondrial dysfunction, and episodic rigidity in a 46,XY male with a de Novo MECP2 gene mutation

Journal of Child Neurology

Volumn 25, Issue 5, 2010, Pages 633-636

  Condie, John ^a   Goldstein, Joshua ^a   Wainwright, Mark S ^a  

^a NORTHWESTERN UNIVERSITY   (United States)

Author keywords

Mcrocephaly; Mitochondria; Rett syndrome

Indexed keywords

BENZODIAZEPINE; METHYL CPG BINDING PROTEIN 2; UBIQUINOL CYTOCHROME C REDUCTASE;

ARTICLE; CASE REPORT; DEVELOPMENTAL DISORDER; DISORDERS OF MITOCHONDRIAL FUNCTIONS; ENZYME ACTIVITY; GENE MUTATION; GENETIC SCREENING; HUMAN; HUMAN TISSUE; INFANT; KARYOTYPE 46,XY; MALE; MICROCEPHALY; MUSCLE BIOPSY; MUSCLE HYPOTONIA; MUSCLE RIGIDITY; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PHYSICAL EXAMINATION; PRIORITY JOURNAL; RETT SYNDROME;

DEVELOPMENTAL DISABILITIES; DIAGNOSIS, DIFFERENTIAL; ELECTRON TRANSPORT COMPLEX III; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; MALE; METHYL-CPG-BINDING PROTEIN 2; MICROCEPHALY; MITOCHONDRIAL DISEASES; MUSCLE RIGIDITY; POINT MUTATION; PONS; RETT SYNDROME; RNA SPLICE SITES;

EID: 77953112373     PISSN: 08830738     EISSN: 17088283     Source Type: Journal    
DOI: 10.1177/0883073809342004     Document Type: Article

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