Atypical giant axonal neuropathy arising from a homozygous mutation by uniparental isodisomy

Clin Genet. 2015 Apr;87(4):395-7. doi: 10.1111/cge.12455. Epub 2014 Sep 8.

Authors

S Miyatake¹, H Tada, S Moriya, J Takanashi, Y Hirano, M Hayashi, Y Oya, M Nakashima, Y Tsurusaki, N Miyake, N Matsumoto, H Saitsu

Affiliation

¹ Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.

PMID: 25040701
DOI: 10.1111/cge.12455

No abstract available

Publication types

Case Reports
Letter
Research Support, Non-U.S. Gov't

MeSH terms

Base Sequence
Cytoskeletal Proteins / genetics*
Exome / genetics
Female
Giant Axonal Neuropathy / genetics*
Giant Axonal Neuropathy / pathology*
Homozygote
Humans
Magnetic Resonance Imaging
Molecular Sequence Data
Neural Conduction / genetics
Neural Conduction / physiology
Sequence Analysis, DNA
Uniparental Disomy / genetics*

Substances

Cytoskeletal Proteins
GAN protein, human