Compound heterozygous RYR1 mutations by whole exome sequencing in a family with three repeated affected fetuses with fetal akinesia-Reference-Cited by-同舟云学术

Compound heterozygous RYR1 mutations by whole exome sequencing in a family with three repeated affected fetuses with fetal akinesia

Published:2018-11 Issue: Volume:230 Page:200-202
ISSN:0301-2115
Container-title:European Journal of Obstetrics & Gynecology and Reproductive Biology
language:en
Short-container-title:European Journal of Obstetrics & Gynecology and Reproductive Biology

Author:

Suzumori Nobuhiro^ORCID,Inagaki Hidehito,Ohtani Ayano,Kumagai Kyoko,Takeda Eri,Yoshihara Hiroyuki,Sawada Yuki,Inuzuka Saki,Iwagaki Shigenori,Takahashi Yuichiro,Kurahashi Hiroki,Sugiura-Ogasawara Mayumi

Publisher

Elsevier BV

Subject

Obstetrics and Gynecology,Reproductive Medicine

Reference5 articles.

1. Identification of KLHL40 mutations by targeted next-generation sequencing facilitated a prenatal diagnosis in a family with three consecutive affected fetuses with fetal akinesia deformation sequence;Chen;Prenat Diagn,2016

2. Screening of ryanodine receptor gene in 105 malignant hyperthermia families: novel mutations and concordance with in vitro contracture test;Brandt;Hum Mol Genet,1999

3. Clinical and pathologic findings of Korean patients with RYR1-related congenital myopathy;Jeong;J Clin Neurol,2018

4. Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth;Todd;Orphanet J Rare Dis,2015

5. Novel compound heterozygous variants in PLK4 identified in a patient with autosomal recessive microcephaly and chorioretinopathy;Tsutsumi;Eur J Hum Genet,2016

Cited by 2 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Single-channel properties of skeletal muscle ryanodine receptor pore Δ4923FF4924 in two brothers with a lethal form of fetal akinesia;Cell Calcium;2020-05

2. The current and future impact of genome-wide sequencing on fetal precision medicine;Human Genetics;2019-11-21