Semi-dominant X-chromosome linked learning disability with progressive ataxia, spasticity and dystonia associated with the novel MECP2 variant p.V122A: Akin to the new MECP2 duplication syndrome?

European Journal of Paediatric Neurology

Volumn 14, Issue 3, 2010, Pages 267-269

  McWilliam, Catherine ^a   Cooke, A ^a   Lobo, D ^b   Warner, J ^b   Taylor, M ^c   Tolmie, J L ^a  

^a Yorkhill Hospitals   (United Kingdom)

^b WESTERN GENERAL HOSPITAL   (United Kingdom)

^c Springpark Centre   (United Kingdom)

Author keywords

Ataxia; Dystonia; Learning disability; MECP2

Indexed keywords

METHYL CPG BINDING PROTEIN 2;

ADOLESCENT; ADULT; ARTICLE; ATAXIA; CASE REPORT; CHILD; DISEASE COURSE; DYSTONIA; EPILEPSY; FEMALE; GENE MUTATION; HUMAN; LEARNING DISORDER; MALE; PHENOTYPE; PRIORITY JOURNAL; PSYCHOSIS; SCHOOL CHILD; SPASTICITY; SYMPTOM; X CHROMOSOME;

ADOLESCENT; ATAXIA; CHILD; DEVELOPMENTAL DISABILITIES; DISEASE PROGRESSION; DNA MUTATIONAL ANALYSIS; DYSTONIA; FATAL OUTCOME; FEMALE; GENES, DOMINANT; GENETIC DISEASES, X-LINKED; GENETIC PREDISPOSITION TO DISEASE; GENETIC VARIATION; HETEROZYGOTE; HUMANS; LEARNING DISORDERS; MALE; METHYL-CPG-BINDING PROTEIN 2; MOVEMENT DISORDERS; MUSCLE SPASTICITY; MUTATION; YOUNG ADULT;

EID: 77950594609     PISSN: 10903798     EISSN: 15322130     Source Type: Journal    
DOI: 10.1016/j.ejpn.2009.06.007     Document Type: Article

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