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

BACKGROUND: Fatal 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 ca...

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Detalles Bibliográficos
Autores principales: Zhang, Shan-shan, Gu, Li-niu, Zhang, Teng, Xu, Lu, Wei, Xiang, Chen, Su-hong, Shi, Su-jie, Sun, Da-quan, Zhou, Shao-hong, Zhao, Qian-ye
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9884804/
https://www.ncbi.nlm.nih.gov/pubmed/36727013
http://dx.doi.org/10.3389/fped.2022.993165

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9884804/
https://www.ncbi.nlm.nih.gov/pubmed/36727013
http://dx.doi.org/10.3389/fped.2022.993165

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