Mutations in VRK1 associated with complex motor and sensory axonal neuropathy plus microcephaly

JAMA Neurology

Volumn 70, Issue 12, 2013, Pages 1491-1498

  Gonzaga Jauregui, Claudia ^a   Lotze, Timothy ^b   Jamal, Leila ^c   Penney, Samantha ^a,b   Campbell, Ian M ^a   Pehlivan, Davut ^a   Hunter, Jill V ^b   Woodbury, Suzanne L ^b   Raymond, Gerald ^d   Adesina, Adekunle M ^b   Jhangiani, Shalini N ^a   Reid, Jeffrey G ^a   Muzny, Donna M ^a   Boerwinkle, Eric ^a,e   Lupski, James R ^a,b   Gibbs, Richard A ^a   Wiszniewski, Wojciech ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b TEXAS CHILDREN S HOSPITAL   (United States)

^c KENNEDY KRIEGER INSTITUTE   (United States)

^d UNIVERSITY OF MINNESOTA   (United States)

^e UNIVERSITY OF TEXAS MEDICAL SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AREFLEXIA; ARTICLE; CASE REPORT; CHILD; CHROMOSOME 14; EXOME; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; HAPLOTYPE; HEREDITARY MOTOR SENSORY NEUROPATHY; HETEROZYGOTE; HOMOZYGOTE; HUMAN; HUMAN TISSUE; MALE; MICROCEPHALY; MUSCLE ATROPHY; MUSCLE BIOPSY; MUSCLE HYPOTONIA; MUSCLE WEAKNESS; NERVE BIOPSY; NERVE CONDUCTION; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; SURAL NERVE; VACCINIA RELATRED KINASE 1 GENE;

EID: 84890424575     PISSN: 21686149     EISSN: None     Source Type: Journal    
DOI: 10.1001/jamaneurol.2013.4598     Document Type: Article

References (20)

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