A novel AP4M1 mutation in autosomal recessive cerebral palsy syndrome and clinical expansion of AP-4 deficiency

BMC Medical Genetics

Volumn 15, Issue 1, 2014, Pages

  Jameel, Muhammad ^a   Klar, Joakim ^b   Tariq, Muhammad ^a   Moawia, Abubakar ^a   Altaf Malik, Naveed ^a   Seema Waseem, Syeda ^a   Abdullah, Uzma ^a   Naeem Khan, Tahir ^a   Raininko, Raili ^b   Baig, Shahid Mahmood ^a   Dahl, Niklas ^b  

^a NATIONAL INSTITUTE FOR BIOTECHNOLOGY AND GENETIC ENGINEERING NIBGE   (Pakistan)

^b UPPSALA UNIVERSITY   (Sweden)

Author keywords

AP 4 deficiency; AP4M1 gene; Cerebral palsy; Clinical variability; Mutation

Indexed keywords

MESSENGER RNA; BASIC HELIX LOOP HELIX LEUCINE ZIPPER TRANSCRIPTION FACTOR; REPIN1 PROTEIN, HUMAN;

ADAPTOR PROTEIN COMPLEX 4 DEFICIENCY; ADOLESCENT; AGGRESSION; AP4M1 GENE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CEREBRAL PALSY; CHILD; CLINICAL FEATURE; CONTROLLED STUDY; EXOME; FIBROBLAST CULTURE; GENE SEQUENCE; GENETIC VARIABILITY; HUMAN; INTELLECTUAL IMPAIRMENT; MALE; MUTATOR GENE; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PAKISTANI; PROTEIN DEFICIENCY; QUANTITATIVE STUDY; REAL TIME POLYMERASE CHAIN REACTION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; COMPLICATION; CONSANGUINITY; DEFICIENCY; GENETICS; HOMOZYGOTE; INFANT; INTELLECTUAL DISABILITY; METABOLISM; MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; PRESCHOOL CHILD; RECESSIVE GENE;

ADOLESCENT; BASIC HELIX-LOOP-HELIX LEUCINE ZIPPER TRANSCRIPTION FACTORS; CEREBRAL PALSY; CHILD; CHILD, PRESCHOOL; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; GENES, RECESSIVE; HOMOZYGOTE; HUMANS; INFANT; INTELLECTUAL DISABILITY; MAGNETIC RESONANCE IMAGING; MALE; MUTATION; PEDIGREE; RNA, MESSENGER;

EID: 84923879223     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/s12881-014-0133-2     Document Type: Article

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