Expanding phenotype of p.Ala140Val mutation in MECP2 in a 4 generation family with X-linked intellectual disability and spasticity

European Journal of Medical Genetics

Volumn 59, Issue 10, 2016, Pages 522-525

  Lambert, Sophie ^a,b   Maystadt, Isabelle ^b,c   Boulanger, Sébastien ^b   Vrielynck, Pascal ^d   Destrée, Anne ^b   Lederer, Damien ^b   Moortgat, Stéphanie ^b  

^a UNIVERSITÉ CATHOLIQUE DE LOUVAIN   (Belgium)

^b Institute of Pathology and Genetics Gosselies   (Belgium)

^c UNIVERSITY OF NAMUR   (Belgium)

^d Hospital de Jolimont   (Belgium)

Author keywords

Angelman like phenotype; MECP2 gene; PPM X syndrome; Rett syndrome; X linked intellectual disability

Indexed keywords

METHYL CPG BINDING PROTEIN 2; MECP2 PROTEIN, HUMAN;

ADULT; AGED; APRAXIA; ATTENTION DEFICIT DISORDER; BODY DYSMORPHIC DISORDER; CAUCASIAN; CLINICAL ARTICLE; CLINICAL EVALUATION; CLINICAL EXAMINATION; COARSE FACE; DIABETES MELLITUS; DYSARTHRIA; DYSTONIC DISORDER; ECHOLALIA; EDUCATION OF INTELLECTUALLY DISABLED; FEMALE; HUMAN; INTELLECTUAL IMPAIRMENT; MALE; MALE TYPE ALOPECIA; MICROCEPHALY; MIDDLE AGED; MILD COGNITIVE IMPAIRMENT; MISSENSE MUTATION; PHENOTYPE; PSYCHOMOTOR DISORDER; REVIEW; SHORT STATURE; SPASTIC PARAPLEGIA; SPASTICITY; SPEECH DELAY; X LINKED MENTAL RETARDATION; ATAXIA; COMPLICATION; EPILEPSY; EYE MOVEMENT DISORDER; GENETICS; PATHOPHYSIOLOGY; PEDIGREE; RETT SYNDROME; X CHROMOSOMAL INHERITANCE; X CHROMOSOME LINKED DISORDER;

ADULT; AGED; ATAXIA; EPILEPSY; FEMALE; GENES, X-LINKED; GENETIC DISEASES, X-LINKED; HUMANS; INTELLECTUAL DISABILITY; MALE; MENTAL RETARDATION, X-LINKED; METHYL-CPG-BINDING PROTEIN 2; MICROCEPHALY; MIDDLE AGED; MUSCLE SPASTICITY; OCULAR MOTILITY DISORDERS; PEDIGREE; PHENOTYPE; RETT SYNDROME;

EID: 84990878497     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2016.07.003     Document Type: Review

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