1 results match your criteria: "Fujian Children's Hospital (Shanghai Children's Medical Center Fujian Hospital)[Affiliation]"
[Genetic analysis of a patient with Rod-shaped myopathy due to variants of NEB gene].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
December 2024
Fujian Children's Hospital (Shanghai Children's Medical Center Fujian Hospital), Fuzhou, Fujian 350011, China.
Article Synopsis
- - The study aimed to investigate the genetic cause of Nemaline myopathy in a 2-month-old girl who presented with symptoms like persistent phlegm and muscle tone reduction.
- - Whole exome sequencing revealed that the child carried two harmful variants of the NEB gene, inherited from her asymptomatic parents, confirming a diagnosis of rod-like myopathy.
- - The findings enhance understanding of the child's condition and provide important information for her family's genetic counseling and reproductive choices.