Mild skeletal muscle symptoms might be accompanied with severe cardiac disease, sometimes indicating a serious inherited disorder. Very often it is a cardiologist who refers a patient with cardiomyopathy and/or cardiac arrhythmia and discrete muscle disease for neurological consultation, which helps to establish a proper diagnosis. Here we present three families in which a diagnosis of skeletal muscle laminopathy was made after careful examination of the members, who presented with cardiac arrhythmia and/or heart failure and a mild skeletal muscle disease, which together with positive family history allowed to direct the molecular diagnostics and then provide appropriate treatment and counseling.
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http://dx.doi.org/10.1016/j.pjnns.2017.09.006 | DOI Listing |
Clin Exp Pharmacol Physiol
March 2025
School of Physical Education, Hangzhou Normal University, Hangzhou, China.
Exercise activates autophagy and lysosome system in skeletal muscle, which are known to play an important role in metabolic adaptation. However, the mechanism of exercise-activated autophagy and lysosome system in obese insulin resistance remains covert. In this study, we investigated the role of exercise-induced activation of autophagy and lysosome system in improving glucose metabolism of skeletal muscle.
View Article and Find Full Text PDFPLoS One
January 2025
Clinic for Orthopaedics, Heidelberg University Hospital, Heidelberg, Germany.
Duchenne gait, characterized by an ipsilateral trunk lean towards the affected stance limb, compensates for weak hip abductor muscles, notably the gluteus medius (GM). This study aims to investigate how electromyographic (EMG) cluster analysis of GM contributes to a better understanding of Duchenne gait in patients with cerebral palsy (CP). We analyzed retrospective gait data from 845 patients with CP and 65 typically developed individuals.
View Article and Find Full Text PDFBiol Open
December 2024
Department of Kinesiology, Hungarian University of Sports Sciences, Alkotás utca 44-48, Budapest 1123, Hungary.
Knee joint position influences ankle torque, but it is unclear whether the soleus compensates to counteract the reductions in gastrocnemius output during knee-flexed versus knee-extended plantarflexions. Therefore, the purpose of this study was to determine the effects of knee joint position and plantarflexion contraction velocity on ankle plantarflexion torque and electromyography activity of the medial gastrocnemius and soleus in healthy young adults. Healthy male participants (n=30) performed concentric plantar flexions in a custom-built dynamometer from 15° dorsiflexion to 30° plantarflexion at gradually increasing velocities during each contraction at 30, 60, 120, 180, and 210° s-1 in a supine position with the knee fully extended and while kneeling with the knee fixed in 90° flexion.
View Article and Find Full Text PDFCell Tissue Res
January 2025
Department of Animal Science, Biotechnical Faculty, University of Ljubljana, Ljubljana, Slovenia.
Traditional transcriptomic studies often overlook the complex heterogeneity of skeletal muscle, as they typically isolate RNA from mixed muscle fibre and cell populations, resulting in an averaged transcriptomic profile that obscures fibre type-specific differences. This study assessed the potential of the recently developed Xenium platform for high-resolution spatial transcriptomic analysis of human skeletal muscle histological sections. Human vastus lateralis muscle samples from two individuals were analysed using the Xenium platform and Human Multi-Tissue and Cancer Panel targeting 377 genes complemented by staining of successive sections for Myosin Heavy Chain isoforms to differentiate between type 1 and type 2 muscle fibres.
View Article and Find Full Text PDFBackground: Sarcopenia has been linked to brain atrophy and there is lack of information on specific muscle groups that may contribute to this link. The psoas muscles are sensitive to sarcopenia and thus may sensitively relate to brain aging and Alzheimer disease risk.
Method: This study utilized 7,149 healthy individuals across four sites (Mean age 53.
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