article_metadata: 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
article_metadata: 10.3389/fped.2022.993165
article_metadata: Front Pediatr
article_metadata: 2023 Jan 16;10:993165.
article_metadata: cryab fatal infantile hypertonic myofibrillar myopathy gene mutation whole exome sequencing
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/36727013/
article_metadata: Case Reports
article_metadata: PMC9884804
article_metadata: 36727013
article_metadata: Case report: Fatal infantile hypertonic myofibrillar myopathy with compound heterozygous mutations in the CRYAB gene
article_metadata: 2023