Simultaneous measurement of the size and methylation of chromosome 4qA-D4Z4 repeats in facioscapulohumeral muscular dystrophy by long-read sequencing

Simultaneous measurement of the size and methylation of chromosome 4qA-D4Z4 repeats in facioscapulohumeral muscular dystrophy by long-read sequencing

Abstract Background Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant muscular disorder characterized by asymmetric muscle wasting and weakness. FSHD can be subdivided into two types: FSHD1, caused by contraction of the D4Z4 repeat on chromosome 4q35, and FSHD2, caused by mild c...

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Main Authors: Yosuke Hiramuki, Yuriko Kure, Yoshihiko Saito, Megumu Ogawa, Keiko Ishikawa, Madoka Mori-Yoshimura, Yasushi Oya, Yuji Takahashi, Dae-Seong Kim, Noriko Arai, Chiaki Mori, Tsuyoshi Matsumura, Tadanori Hamano, Kenichiro Nakamura, Koji Ikezoe, Shinichiro Hayashi, Yuichi Goto, Satoru Noguchi, Ichizo Nishino
Format: Article
Language:English
Published: BMC 2022-11-01
Series:Journal of Translational Medicine
Subjects:
Facioscapulohumeral muscular dystrophy
D4Z4
DUX4
Nanopore sequencer
CpG methylation
CRISPR/Cas9
Online Access:https://doi.org/10.1186/s12967-022-03743-7

Internet

https://doi.org/10.1186/s12967-022-03743-7

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