Giant axonal neuropathy caused by a novel compound heterozygous mutation in the gigaxonin gene

Journal of Child Neurology

Volumn 28, Issue 10, 2013, Pages 1316-1319

  Xu, Min ^a   Da, Yu Wei ^a   Liu, Lu ^a   Wang, Fen ^a   Jia, Jian Ping ^a  

^a CAPITAL MEDICAL UNIVERSITY   (China)

Author keywords

genetic; giant axonal neuropathy; gigaxonin; pathology

Indexed keywords

CELL PROTEIN; GIGAXONIN; UNCLASSIFIED DRUG;

ARTICLE; BABINSKI REFLEX; BRAIN ELECTROPHYSIOLOGY; CASE REPORT; CHILD; EXON; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC SCREENING; GIANT AXONAL NEUROPATHY; HUMAN; HUMAN TISSUE; INTELLIGENCE; KINKY HAIR; MENTAL DEVELOPMENT; MISSENSE MUTATION; MUSCLE WEAKNESS; NERVE BIOPSY; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; NYSTAGMUS; PERONEUS NERVE PARALYSIS; PRIORITY JOURNAL; SCHOOL CHILD; SCOLIOSIS; SKIN TEMPERATURE; SURAL NERVE; TENDON REFLEX; WALKING DIFFICULTY;

GENETIC; GIANT AXONAL NEUROPATHY; GIGAXONIN; PATHOLOGY;

CHILD; CYTOSKELETAL PROTEINS; FEMALE; GIANT AXONAL NEUROPATHY; HUMANS; MUTATION; NERVE FIBERS, MYELINATED;

EID: 84884200851     PISSN: 08830738     EISSN: 17088283     Source Type: Journal    
DOI: 10.1177/0883073812467688     Document Type: Article

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