[HTML][HTML] Fibro-adipogenic progenitors in physiological adipogenesis and intermuscular adipose tissue remodeling
M Flores-Opazo, D Kopinke, F Helmbacher… - Molecular Aspects of …, 2024 - Elsevier
Excessive accumulation of intermuscular adipose tissue (IMAT) is a common pathological
feature in various metabolic and health conditions and can cause muscle atrophy, reduced …
feature in various metabolic and health conditions and can cause muscle atrophy, reduced …
Periodic paralysis across the life course: age-related phenotype transition and sarcopenia overlap
K Suetterlin, S Law, WD Arnold - Frontiers in Neurology, 2024 - frontiersin.org
In Periodic Paralysis (PP), a rare inherited condition caused by mutation in skeletal muscle
ion channels, the phenotype changes with age, transitioning from the episodic attacks of …
ion channels, the phenotype changes with age, transitioning from the episodic attacks of …
Clinicopathological‐genetic features of congenital myasthenic syndrome from a Chinese neuromuscular centre
K Huang, HQ Duan, QX Li, YB Luo… - Journal of Cellular …, 2022 - Wiley Online Library
Congenital myasthenic syndrome (CMS) encompasses a heterogeneous group of inherited
disorders affecting nerve transmission across the neuromuscular junction. The aim of this …
disorders affecting nerve transmission across the neuromuscular junction. The aim of this …
A c. 1775C> T Point Mutation of Sodium Channel Alfa Subunit Gene (SCN4A) in a Three-Generation Sardinian Family with Sodium Channel Myotonia
C Campanale, P Laghetti, I Saltarella… - Journal of …, 2024 - content.iospress.com
Background: The nondystrophic myotonias are rare muscle hyperexcitability disorders
caused by gain-of-function mutations in the SCN4A gene or loss-of-function mutations in the …
caused by gain-of-function mutations in the SCN4A gene or loss-of-function mutations in the …
[HTML][HTML] Hypokalemic Periodic Paralysis Type 2 Due to SCN4A Val1105Met Mutation: A Case Study
NQ Hu, JY Yang, JL Lv, YZ Zhu, LH Li - Cureus, 2024 - ncbi.nlm.nih.gov
Abstract Hypokalemic Periodic Paralysis Type 2 (HOKPP2) is a rare autosomal dominant
disorder characterized by recurrent episodes of muscle weakness, paralysis, and …
disorder characterized by recurrent episodes of muscle weakness, paralysis, and …