@article{4e791fdbb68c4ad8bf741bc008ec1863,
title = "Novel PLA2G6 mutations associated with an exonic deletion due to non-allelic homologous recombination in a patient with infantile neuroaxonal dystrophy",
abstract = "Novel PLA2G6 mutations associated with p.Asp283Asn and a unique intragenic deletion of exons 4 and 5 due to non-allelic homologous recombination were identified in a Japanese female patient with typical infantile neuroaxonal dystrophy. The patient showed progressive tetraplegia beginning at 9 months. An electroencephalogram showed a diffuse increase in fast waves, and brain magnetic resonance imaging showed progressive brain atrophy and T2 hypointensity in the globus pallidus.",
author = "Toshiyuki Yamamoto and Keiko Shimojima and Takashi Shibata and Mari Akiyama and Makio Oka and Tomoyuki Akiyama and Harumi Yoshinaga and Katsuhiro Kobayashi",
note = "Funding Information: We would like to express our gratitude to the patients and their families for their cooperation. We are grateful to the technicians from our laboratories including Yumiko Ondo for their skillful help. This research was supported by the Practical Research Project for Rare/Intractable Diseases from Japan Agency for Medical Research and Development (AMED) and Japan Society for the Promotion of Science (JSPS) KAKENHI Grant Number 15K09631. Publisher Copyright: {\textcopyright} 2015 The Japan Society of Human Genetics.",
year = "2015",
doi = "10.1038/HGV.2015.48",
language = "English",
volume = "2",
journal = "Human Genome Variation",
issn = "2054-345X",
publisher = "Nature Publishing Group",
number = "1",
}