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

• Main Authors: Shan-shan Zhang (Author), Li-niu Gu (Author), Teng Zhang (Author), Lu Xu (Author), Xiang Wei (Author), Su-hong Chen (Author), Su-jie Shi (Author), Da-quan Sun (Author), Shao-hong Zhou (Author), Qian-ye Zhao (Author)
• Format: Bog
• Udgivet: Frontiers Media S.A., 2023-01-01T00:00:00Z.
• Fag: article
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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...