Výsledky vyhledávání - "Qing-mei Dai"

Neonatal myofibrillar myopathy type II associated with biallelic UNC-45B gene novel mutation and perinatal myasthenia as the core phenotype: A case report

Autor: Le-yang Shi, Yu Liu, Xiao-feng Hu, Xian-hong Li, Xue-yan Wu, Jun Hu, Chao-qun Ye, Qing-mei Dai, Hui-zhi Huang

Publikováno v: Clinica chimica acta; international journal of clinical chemistry. 531

Myofibrillar myopathy (MFM) is characterized by phenotypic heterogeneity; decreased function of the myosin-directed chaperone, UNC-45B protein, leads to MFM II, which is characterized by slow progressive proximal myasthenia. Currently, only two studi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::79ec6ac105212f76f8dc6a919dd23f50
https://pubmed.ncbi.nlm.nih.gov/35292251

Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání