Open AccessCentronuclear myopathy due to a de novo nonsense variant and a maternally inherited splice‐site variant in TTN : A case report
Author(s) -
Huang Sheng,
Ma Yinan,
Zhang Yu,
Xiong Hui,
Chang Xingzhi
Publication year - 2021
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.4478
Subject(s) - nonsense , genetics , medicine , compound heterozygosity , splice , nonsense mutation , splice site mutation , mutation , gene , biology , exon , alternative splicing , missense mutation
Next‐generation sequencing has resulted in an explosion of rare de novo TTN variants. The clinical interpretation of these de novo variants in patients with recessive titinopathy is very difficult. Here, we provided a useful way to identify compound heterozygous mutations with a de novo one.