• Mutation; HGNC; HGNC:4137; GAN; Simple; c.282+3A>C (Ex2del); ClinVar=VCV000637094; Zygosity=Heterozygous (PubMed=17331252).
  
• Mutation; HGNC; HGNC:4137; GAN; Simple; p.Ile182Asn (c.545T>A); ClinVar=VCV000637093; Zygosity=Heterozygous (PubMed=17331252).
  

PubMed=6280044; DOI=10.1002/mus.880050215
Sergio Danilo Junho Pena;
Giant axonal neuropathy: an inborn error of organization of intermediate filaments.
Muscle Nerve 5:166-172(1982)

PubMed=6315439
Sergio Danilo Junho Pena, Michal Opas, Kursad Turksen, Vitauts I. Kalnins, Stirling Haines Carpenter;
Immunocytochemical studies of intermediate filament aggregates and their relationship to microtubules in cultured skin fibroblasts from patients with giant axonal neuropathy.
Eur. J. Cell Biol. 31:227-234(1983)

PubMed=3880753; DOI=10.1083/jcb.100.1.245; PMCID=PMC2113460
Michael W. Klymkowsky, Dorothy J. Plummer;
Giant axonal neuropathy: a conditional mutation affecting cytoskeletal organization.
J. Cell Biol. 100:245-250(1985)

PubMed=17331252; DOI=10.1186/1471-2156-8-6; PMCID=PMC1810559
Conrad L. Leung, Ying-Hua Pang, Chang Shu, Dmitry Goryunov, Ronald K.H. Liem;
Alterations in lipid metabolism gene expression and abnormal lipid accumulation in fibroblast explants from giant axonal neuropathy patients.
BMC Genet. 8:6.1-6.12(2007)