Case report: Fatal infantile hypertonic myofibrillar myopathy with compound heterozygous mutations in the CRYAB gene

Case report: Fatal infantile hypertonic myofibrillar myopathy with compound heterozygous mutations in the CRYAB gene

BackgroundFatal infantile hypertonic myofibrillar myopathy (FIHMM) is an autosomal recessive hereditary disease characterized by amyotrophy, progressive flexion contracture and ankylosis of the trunk and limb muscles, apnea and respiratory failure, and increased creatine phosphate levels. It is caus...

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Bibliographic Details
Main Authors: 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
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-01-01
Series:Frontiers in Pediatrics
Subjects:
CRYAB
fatal infantile hypertonic myofibrillar myopathy
gene
mutation
whole exome sequencing
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2022.993165/full

Internet

https://www.frontiersin.org/articles/10.3389/fped.2022.993165/full

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