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Rett syndrome: Revised diagnostic criteria and nomenclature
Rett syndrome (RTT) is a severe neurodevelopmental disease that affects approximately 1 in 10,000 live female births and is often caused by mutations in Methyl‐CpG‐binding protein 2 (MECP2). DespiteExpand
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Leigh syndrome: Clinical features and biochemical and DNA abnormalities
We investigated the etiology of Leigh syndrome in 67 Australian cases from 56 pedigrees, 35 with a firm diagnosis and 32 with some atypical features. Biochemical or DNA defects were determined inExpand
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Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation.
Rett syndrome (RTT) is a severe neurodevelopmental disorder caused, in most classic cases, by mutations in the X-linked methyl-CpG-binding protein 2 gene (MECP2). A large degree of phenotypicExpand
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Early onset seizures and Rett-like features associated with mutations in CDKL5
Mutations in the CDKL5 gene (also known as STK9) have recently been shown to cause early onset epilepsy and severe mental retardation (ISSX or West syndrome). Patients with CDKL5 mutations sometimesExpand
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Rett syndrome in Australia: a review of the epidemiology.
OBJECTIVE To examine the prevalence, cumulative incidence, and survival in an Australian cohort with Rett syndrome (RTT). STUDY DESIGN The Australian Rett Syndrome Database is a longitudinal dataExpand
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Rett syndrome: clinical review and genetic update
Rett syndrome (RS) is a severe neurodevelopmental disorder that contributes significantly to severe intellectual disability in females worldwide. It is caused by mutations in MECP2 in the majority ofExpand
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Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome.
Mitochondrial respiratory chain disorders are a heterogeneous group of disorders in which the underlying genetic defect is often unknown. We have identified a pathogenic mutation (c.156C>G [p.F52L])Expand
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Mutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial disease.
Complex I (NADH:ubiquinone oxidoreductase) is the first and largest multimeric complex of the mitochondrial respiratory chain. Human complex I comprises seven subunits encoded by mitochondrial DNAExpand
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Mecp2 deficiency is associated with learning and cognitive deficits and altered gene activity in the hippocampal region of mice.
Rett syndrome (RTT) is a debilitating neurological condition associated with mutations in the X-linked MECP2 gene, where apparently normal development is seen prior to the onset of cognitive andExpand
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Rett syndrome: new clinical and molecular insights
In this review, we give a clinical overview of Rett syndrome (RTT), and provide a framework for clinical and molecular approaches to the diagnosis of this severe neurodevelopmental disorder. We alsoExpand
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