[HTML][HTML] Tropomyosin 3 (TPM3) function in skeletal muscle and in myopathy
MR Lambert, E Gussoni - Skeletal Muscle, 2023 - Springer
Abstract The tropomyosin genes (TPM1-4) contribute to the functional diversity of skeletal
muscle fibers. Since its discovery in 1988, the TPM3 gene has been recognized as an …
muscle fibers. Since its discovery in 1988, the TPM3 gene has been recognized as an …
[HTML][HTML] Pharmacological Inhibition of myostatin in a mouse model of typical nemaline myopathy increases muscle size and force
J Lindqvist, H Granzier - International Journal of Molecular Sciences, 2023 - mdpi.com
Nemaline myopathy is one of the most common non-dystrophic congenital myopathies.
Individuals affected by this condition experience muscle weakness and muscle smallness …
Individuals affected by this condition experience muscle weakness and muscle smallness …
Clinical manifestation of nebulin-associated nemaline myopathy
CAM Moreno, MC Artilheiro, ATQSM Fonseca… - Neurology …, 2023 - AAN Enterprises
Background and Objectives Nemaline myopathy (NM) is a genetically heterogeneous
inherited myopathy related with at least 12 genes, whereas pathogenic variants in NEB …
inherited myopathy related with at least 12 genes, whereas pathogenic variants in NEB …
Tirasemtiv enhances submaximal muscle tension in an Acta1:p.Asp286Gly mouse model of nemaline myopathy
Nemaline myopathies are the most common form of congenital myopathies. Variants in
ACTA1 (NEM3) comprise 15–25% of all nemaline myopathy cases. Patients harboring …
ACTA1 (NEM3) comprise 15–25% of all nemaline myopathy cases. Patients harboring …
[HTML][HTML] Self-reported functioning among patients with ultra-rare nemaline myopathy or a related disorder in Finland: a pilot study
VL Lehtokari, M Similä, M Tammepuu… - Orphanet journal of rare …, 2023 - Springer
Background Nemaline myopathy (NM) and related disorders (NMr) form a heterogenous
group of ultra-rare (1: 50,000 live births or less) congenital muscle disorders. To elucidate …
group of ultra-rare (1: 50,000 live births or less) congenital muscle disorders. To elucidate …
[HTML][HTML] Respiratory function in LAMA2-related muscular dystrophy and SELENON-related congenital myopathy, a 1.5-year natural history study
K Bouman, JLM van Doorn, JT Groothuis… - European Journal of …, 2024 - Elsevier
Introduction LAMA2-related muscular dystrophy (LAMA2-MD) and SELENON (SEPN1)-
related congenital myopathy (SELENON-RM) are rare neuromuscular diseases with …
related congenital myopathy (SELENON-RM) are rare neuromuscular diseases with …
A cross-sectional study in 18 patients with typical and mild forms of nemaline myopathy in the Netherlands
ESB van Kleef, SAJH van de Camp, JT Groothuis… - Neuromuscular …, 2024 - Elsevier
Nemaline myopathy (NM) is a congenital myopathy with generalised muscle weakness,
most pronounced in neck flexor, bulbar and respiratory muscles. The aim of this cross …
most pronounced in neck flexor, bulbar and respiratory muscles. The aim of this cross …
[HTML][HTML] Disruption of cardio-pulmonary coupling in myopathies: Pathophysiological and mechanistic characterization with special emphasis on nemaline myopathy
DM Ronderos-Botero, A Dileep, L Yapor… - Frontiers in …, 2022 - frontiersin.org
The heart and lung are in continuous reciprocal interaction that creates a functional and
anatomical reserve referred to as cardiopulmonary coupling (CPC). Disruption of CPC can …
anatomical reserve referred to as cardiopulmonary coupling (CPC). Disruption of CPC can …
[HTML][HTML] A case of acute hypercapnic respiratory failure secondary to late onset nemaline rod myopathy: A multi-disciplinary approach
C Madala, S Giridharan, A Vacchio - Respiratory Medicine Case Reports, 2024 - Elsevier
Background Nemaline rod myopathy (NRM) is a rare muscle disorder defined by muscle
weakness, respiratory insufficiency, and dysphagia. Respiratory muscle involvement can …
weakness, respiratory insufficiency, and dysphagia. Respiratory muscle involvement can …