Giant axonal neuropathy (GAN): Case report and two novel mutations in the gigaxonin gene

Neurology

Volumn 58, Issue 8, 2002, Pages 1273-1276

  Kuhlenbaumer G ^a   Young, P ^a   Oberwittler, C ^b   Hunermund G ^a   Schirmacher, A ^a   Domschke, K ^a   Ringelstein, B ^a   Stogbauer F ^a  

^a UNIVERSITY OF MÜNSTER   (Germany)

^b St Vincenz Krankenhaus   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

GIGAXONIN; PROTEIN DERIVATIVE; UNCLASSIFIED DRUG;

ADOLESCENT; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; DNA SEQUENCE; GAIT DISORDER; GENE MUTATION; GIANT AXONAL NEUROPATHY; HUMAN; MALE; NERVE CONDUCTION; NEUROPATHY; NUCLEOTIDE SEQUENCE; POLYNEUROPATHY; PRIORITY JOURNAL;

EID: 0037161247     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.58.8.1273     Document Type: Article

References (10)

1. Giant axonal neuropathy
2. Giant axonal neuropathy: A review
3. Giant axonal neuropathy: A generalized disorder of intermediate filaments with longitudinal grooves in the hair
4. Giant axonal neuropathy: A clinically and morphologically distinct neurological disease
5. Giant axonal neuropathy: Correlation of clinical findings with postmortem neuropathology
6. Homozygosity mapping of giant axonal neuropathy gene to chromosome 16q24.1
7. The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy
8. A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene
9. The kelch repeat superfamily of proteins: Propellers of cell function
10. In-depth mutational analysis of the promyelocytic leukemia zinc finger BTB/POZ domain reveals motifs and residues required for biological and transcriptional functions