Coinheritance of mutated SMN1 and MECP2 genes in a child with phenotypic features of spinal muscular atrophy (SMA) type II and Rett syndrome

European Journal of Paediatric Neurology

Volumn 11, Issue 4, 2007, Pages 235-239

  Voutoufianakis, S ^a   Psoni, S ^c   Vorgia, P ^b   Tsekoura, F ^a   Kekou, K ^c   Traeger Synodinos, J ^c   Kitsiou, S ^c   Kanavakis, E ^c   Fryssira, H ^c  

^a Venizelion General Hospital   (Greece)

^b UNIVERSITY OF CRETE   (Greece)

^c UNIVERSITY OF ATHENS   (Greece)

Author keywords

Coexistence; DNA analysis; Rett syndrome; Spine muscular atrophy

Indexed keywords

ARGININE; CYSTEINE; CYTOSINE; DNA; METHYL CPG BINDING PROTEIN 2; PROTEIN SMN1; SURVIVAL MOTOR NEURON PROTEIN; THYMINE; UNCLASSIFIED DRUG;

AREFLEXIA; ARTICLE; BREATH HOLDING; CASE REPORT; CLINICAL ASSESSMENT; CLINICAL FEATURE; DIAGNOSTIC ACCURACY; DNA DETERMINATION; EXON; FAMILY COUNSELING; FEMALE; GEL ELECTROPHORESIS; GENE DELETION; GENE MUTATION; GENETIC COUNSELING; HAND WASHING; HUMAN; HYPERVENTILATION; INHERITANCE; LEG DISEASE; MICROCEPHALY; MISSENSE MUTATION; MONOGENIC DISORDER; MOTOR DYSFUNCTION; MUSCLE ATROPHY; MUSCLE HYPOTONIA; PHENOTYPE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; PSYCHOMOTOR DISORDER; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; RETT SYNDROME; SEIZURE; SEQUENCE ANALYSIS; SPINAL MUSCULAR ATROPHY; STEREOTYPY;

BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; CYCLIC AMP RESPONSE ELEMENT-BINDING PROTEIN; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; METHYL-CPG-BINDING PROTEIN 2; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; NERVE TISSUE PROTEINS; PHENOTYPE; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; RETT SYNDROME; RNA-BINDING PROTEINS; SPINAL MUSCULAR ATROPHIES OF CHILDHOOD;

EID: 34249674956     PISSN: 10903798     EISSN: 15322130     Source Type: Journal    
DOI: 10.1016/j.ejpn.2006.12.007     Document Type: Article

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