• 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
Pena S.D.J.
Giant axonal neuropathy: an inborn error of organization of intermediate filaments.
Muscle Nerve 5:166-172(1982)

PubMed=6315439
Pena S.D.J., Opas M., Turksen K., Kalnins V.I., Carpenter S.H.
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
Klymkowsky M.W., Plummer D.J.
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
Leung C.L., Pang Y.-H., Shu C., Goryunov D., Liem R.K.H.
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)