Shan-Shan Zhang Li-Niu Gu Teng Zhang Lu Xu Xiang Wei Su-Hong Chen Su-Jie Shi Da-Quan Sun Shao-Hong Zhou Qian-Ye Zhao
10.3389/fped.2022.993165
Front Pediatr
2023 Jan 16;10:993165.
cryab fatal infantile hypertonic myofibrillar myopathy gene mutation whole exome sequencing
CC BY
https://pubmed.ncbi.nlm.nih.gov/36727013/
Case Reports
PMC9884804
36727013
Case report: Fatal infantile hypertonic myofibrillar myopathy with compound heterozygous mutations in the CRYAB gene
2023