Cardiac manifestations in a child with a novel mutation in creatine transporter gene SLC6A8.
Anselm
Irina A
IA
Department of Neurology, Children's Hospital Boston, Harvard Medical School, Boston, MA 02115, USA.
Coulter
David L
DL
Darras
Basil T
BT
D001483:Base Sequence; D001923:Brain Chemistry; D002648:Child; D002653:Child Behavior Disorders / Q000235:genetics; D003401:Creatine / Q000032:analysis; D002658:Developmental Disabilities / Q000235:genetics*; D015716:Electrocardiography, Ambulatory; D005091:Exons / Q000235:genetics; D016368:Frameshift Mutation; D005998:Glycine / Q000031:analogs & derivatives / Q000097:blood / Q000652:urine; D006801:Humans; D007805:Language Development Disorders / Q000235:genetics; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D038901:X-Linked Intellectual Disability / Q000235:genetics; D008969:Molecular Sequence Data; D009419:Nerve Tissue Proteins / Q000172:deficiency / Q000235:genetics* / Q000502:physiology; D010641:Phenotype; D050480:Plasma Membrane Neurotransmitter Transport Proteins / Q000172:deficiency / Q000235:genetics* / Q000502:physiology; D017384:Sequence Deletion; D018879:Ventricular Premature Complexes / Q000235:genetics*
D009419:Nerve Tissue Proteins; D050480:Plasma Membrane Neurotransmitter Transport Proteins; C094770:SLC6A8 protein, human; C004946:glycocyamine; D003401:Creatine; D005998:Glycine