Elucidation of the pathogenic mechanism and potential treatment strategy for a female patient with spastic paraplegia derived from a single-nucleotide deletion in PLP1-Reference-Cited by-同舟云学术

Elucidation of the pathogenic mechanism and potential treatment strategy for a female patient with spastic paraplegia derived from a single-nucleotide deletion in PLP1

Published:2019-04-19 Issue:7 Volume:64 Page:665-671
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Yamamoto-Shimojima Keiko,Imaizumi Taichi,Aoki Yusuke,Inoue Ken,Kaname Tadashi^ORCID,Okuno Yusuke^ORCID,Muramatsu Hideki,Kato Kohji,Yamamoto Toshiyuki^ORCID

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/s10038-019-0600-x.pdf

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3. Shimojima K, Tanaka R, Shimada S, Sangu N, Nakayama J, Iwasaki N, et al. A novel homozygous mutation of GJC2 derived from maternal uniparental disomy in a female patient with Pelizaeus-Merzbacher-like disease. J Neurol Sci. 2013;330:123–6.

4. Shimojima K, Okumura A, Ikeno M, Nishimura A, Saito A, Saitsu H, et al. A de novo TUBB4A mutation in a patient with hypomyelination mimicking Pelizaeus-Merzbacher disease. Brain Dev. 2015;37:281–5.

5. Sasaki H, Yanagi K, Ugi S, Kobayashi K, Ohkubo K, Tajiri Y, et al. Definitive diagnosis of mandibular hypoplasia, deafness, progeroid features and lipodystrophy (MDPL) syndrome caused by a recurrent de novo mutation in the POLD1 gene. Endocr J. 2018;65:227–38.

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