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Can I read Muscle Fat Replacement and Contractility in Patients with Skeletal Muscle Sodium Channel Disorders on EtoBox?

Muscle Fat Replacement and Contractility in Patients with Skeletal Muscle Sodium Channel Disorders by Jonas Jalili Pedersen; Mads Godtfeldt Stemmerik; Laura Nørager Jacobsen; Sofie Vinther Skriver; Gustav Rhode Wilms; Morten Duno; John Vissing is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.

What is Muscle Fat Replacement and Contractility in Patients with Skeletal Muscle Sodium Channel Disorders about?

## Abstract Skeletal muscle sodium channel disorders give rise to episodic symptoms such as myotonia and/or periodic paralysis. Chronic symptoms with permanent weakness are not considered characteristic of the phenotypes. Muscle fat replacement represents irreversible damage that inevitably will impact on muscle strength. This study investigates muscle fat replacement and contractility in patients with pathogenic SCN4A variants compared to healthy controls. T1-weighted and 2-point Dixon MRI of the legs were conducted to assess fat replacement. Stationary dynamometry was used to assess muscle strength. Contractility was determined by maximal muscle contraction divided by cross-sectional muscle area. The average cross-sectional intramuscular fat fraction was greater in patients compared with controls by 2.5% in the calves (95% CI 0.74–4.29%, p = 0.007) and by 2.0% in the thighs (95% CI 0.75–3.2%, p = 0.003). Muscle contractility was less in patients vs. controls by 14–27% (p < 0.05). Despite greater fat fraction and less contractility, absolute strength was not significantly less. This study quantitatively documents greater fat fraction and additionally describes difference in muscle

Who reads Muscle Fat Replacement and Contractility in Patients with Skeletal Muscle Sodium Channel Disorders?

It is typically read by researchers, students, and practitioners in Biochemistry, Genetics and Molecular Biology.

Author
Jonas Jalili Pedersen; Mads Godtfeldt Stemmerik; Laura Nørager Jacobsen; Sofie Vinther Skriver; Gustav Rhode Wilms; Morten Duno; John Vissing
Publisher
Springer Science and Business Media LLC
Published
2023
Language
EN
Field
Biochemistry, Genetics and Molecular Biology (Life Sciences)

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