Megaconial congenital muscular dystrophy secondary to novel CHKB mutations resemble atypical Rett syndrome-Reference-Cited by-同舟云学术

Megaconial congenital muscular dystrophy secondary to novel CHKB mutations resemble atypical Rett syndrome

Published:2021-03-12 Issue:8 Volume:66 Page:813-823
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Bardhan Mainak^ORCID,Polavarapu Kiran,Bevinahalli Nandeesh N.,Veeramani Preethish-Kumar,Anjanappa Ram Murthy,Arunachal Gautham,Shingavi Leena,Vengalil Seena,Nashi Saraswati,Chawla Tanushree,Nagabushana Divya,Mohan Dhaarini,Horvath Rita,Nishino Ichizo^ORCID,Atchayaram Nalini

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/s10038-021-00913-1.pdf

Reference17 articles.

1. Aoyama C, Liao H, Ishidate K. Structure and function of choline kinase isoforms in mammalian cells. Prog Lipid Res. 2004;43:266–81.

2. Mitsuhashi S, Hatakeyama H, Karahashi M, Koumura T, Nonaka I, Hayashi YK, et al. Muscle choline kinase beta defect causes mitochondrial dysfunction and increased mitophagy. Hum Mol Genet. 2011;20:3841–51.

3. Nishino I, Kobayashi O, Goto Y, Kurihara M, Kumagai K, Fujita T, et al. A new congenital muscular dystrophy with mitochondrial structural abnormalities. Muscle Nerve [Internet]. 1998;21:40–7.

4. Sher RB, Aoyama C, Huebsch KA, Ji S, Kerner J, Yang Y, et al. A rostrocaudal muscular dystrophy caused by a defect in choline kinase beta, the first enzyme in phosphatidylcholine biosynthesis. J Biol Chem. 2006;281:4938–48.

5. Mitsuhashi S, Ohkuma A, Talim B, Karahashi M, Koumura T, Aoyama C, et al. A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis. Am J Hum Genet. 2011;88:845–51.

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