التفاصيل البيبلوغرافية
| العنوان: |
Contractile properties and magnetic resonance imaging‐assessed fat replacement of muscles in myotonia congenita |
| المؤلفون: |
Jacobsen, Laura Nørager, Stemmerik, Mads Godtfeldt, Skriver, Sofie Vinther, Pedersen, Jonas Jalili, Løkken, Nicoline, Vissing, John |
| المصدر: |
European Journal of Neurology ; volume 31, issue 4 ; ISSN 1351-5101 1468-1331 |
| بيانات النشر: |
Wiley |
| سنة النشر: |
2024 |
| المجموعة: |
Wiley Online Library (Open Access Articles via Crossref) |
| الوصف: |
Background and purpose Myotonia congenita (MC) is a muscle channelopathy in which pathogenic variants in a key sarcolemmal chloride channel Gene ( CLCN1 ) cause myotonia. This study used muscle magnetic resonance imaging (MRI) to quantify contractile properties and fat replacement of muscles in a Danish cohort of MC patients. Methods Individuals with the Thomsen (dominant) and Becker (recessive) variants of MC were studied. Isometric muscle strength, whole‐body MRI, and clinical data were collected. The degree of muscle fat replacement of thigh, calf, and forearm muscles was quantitively calculated on Dixon MRI as fat fractions (FFs). Contractility was evaluated as the muscle strength per contractile muscle cross‐sectional area (PT/CCSA). Muscle contractility was compared with clinical data. Results Intramuscular FF was increased and contractility reduced in calf and in forearm muscles compared with controls (FF = 7.0–14.3% vs. 5.3–9.6%, PT/CCSA = 1.1–4.9 Nm/cm 2 vs. 1.9–5.8 Nm/cm 2 [ p < 0.05]). Becker individuals also showed increased intramuscular FF and reduced contractility of thigh muscles (FF = 11.9% vs. 9.2%, PT/CCSA = 1.9 Nm/cm 2 vs. 3.2 Nm/cm 2 [ p < 0.05]). Individual muscle analysis showed that increased FF was limited to seven of 18 examined muscles ( p < 0.05). There was a weak correlation between reduced contractility and severity of symptoms. Conclusions Individuals with MC have increased fat replacement and reduced contractile properties of muscles. Nonetheless, changes were small and likely did not impact clinically on their myotonic symptoms. |
| نوع الوثيقة: |
article in journal/newspaper |
| اللغة: |
English |
| DOI: |
10.1111/ene.16207 |
| الإتاحة: |
https://doi.org/10.1111/ene.16207Test |
| حقوق: |
http://creativecommons.org/licenses/by-nc-nd/4.0Test/ |
| رقم الانضمام: |
edsbas.823EBB41 |
| قاعدة البيانات: |
BASE |
