Results 41 to 50 of about 3,537,976 (165)

Identification of a Novel FLNC Truncating Variant in Fetal Tetralogy of Fallot: A Case Report and Review of the Literature

Diagnostics
Background and Clinical Significance: FLNC encodes filamin C, a muscle-scaffolding protein crucial for cardiac integrity. Pathogenic FLNC variants cause diverse cardiomyopathies (hypertrophic, dilated, restrictive, and arrhythmogenic) and myofibrillar ...
Zhiqiang Zhang, Dandan Wang, Cong Fang, Linan Xu, Shujing He, Zi Ren, Lei Jia, Xiaoyan Liang   +7 more
doaj   +1 more source

A rhesus macaque model of α‐dystroglycanopathy caused by a POMT1 splice altering variant

Animal Models and Experimental Medicine, EarlyView.
Rhesus macaques homozygous for a naturally occurring spice altering variant in the POMT1 gene develop lissencephaly, microphthalmia, and muscular contracture. The presentation models severe presentation of the human Walker‐Warburg syndrome. Abstract Background Biallelic mutations in genes associated with α‐dystroglycan glycosylation manifest in a ...
Anya Nordlund, Brian LaMendola, Nathan P. Crilly, Seth Kittle, Betsy M. Ferguson, Anne D. Lewis, Jeff Wall, Samuel M. Peterson   +7 more
wiley   +1 more source

Congenital myopathies with secondary neuromuscular transmission defects; A case report and review of the literature.

, 2014
Congenital myopathies are a clinically and genetically heterogeneous group of disorders characterized by early onset hypotonia, weakness and characteristic, but not pathognomonic, structural abnormalities in muscle fibres.
Palace, J, Sewry, C, Jayawant, S, Palace, Jacqueline, Squier, W, Beeson, D, Rodríguez Cruz, PM, Beeson, David, McWilliam, R   +8 more
core   +1 more source

Cytoskeleton–Membrane Uncoupling in Duchenne Muscular Dystrophy: Implications for Newborn Screening and Early Protection

Cytoskeleton, EarlyView.
ABSTRACT The cytoskeleton of striated muscle integrates force transmission, mechanotransduction, and sarcolemmal stability through coordinated networks of sarcomeres, costameres, and intermediate filaments. Together, these systems establish mechanical continuity between the contractile apparatus, the sarcolemma, and the extracellular matrix.
Houda Cohen, Nora Hosny, Brian R. Thompson, Joseph M. Metzger   +3 more
wiley   +1 more source

Congenital myopathies: diseases of the actin cytoskeleton

, 2004
Congenital myopathies are clinical and genetic heterogeneous disorders characterized by skeletal muscle weakness ranging in severity. Three major forms have been identified: actin myopathy, intranuclear rod myopathy, and nemaline myopathy.
Clarkson, E, Costa, C, Machesky, Laura M., Clarkson, Emilie, Machesky, Laura, Costa, Celine F.   +5 more
core   +1 more source

Congenital myopathies: disorders of excitation-contraction coupling and muscle contraction [PDF]

, 2018
The congenital myopathies are a group of early-onset, non-dystrophic neuromuscular conditions with characteristic muscle biopsy findings, variable severity and a stable or slowly progressive course. Pronounced weakness in axial and proximal muscle groups
Gautel, M, Sarkozy, A, Zorzato, F, Sewry, C, Phadke, R, Ochala, J, Muntoni, F, Jungbluth, H, Treves, S   +8 more
core   +2 more sources

Secretopathies emerge as a new class of neurocristopathies

Developmental Dynamics, EarlyView.
Abstract Neural crest cells are a transient embryonic population of cells that give rise to a wide range of structures, including craniofacial cartilage and bone, peripheral neurons and glia, as well as components of the cardiac outflow tract, among others.
Amanda Teixeira, Cassandra Millet‐Boureima, Joshua A. Moore, Loydie A. Jerome‐Majewska   +3 more
wiley   +1 more source

Making sense of missense variants in TTN-related congenital myopathies [PDF]

, 2021
Mutations in the sarcomeric protein titin, encoded by TTN, are emerging as a common cause of myopathies. The diagnosis of a TTN-related myopathy is, however, often not straightforward due to clinico-pathological overlap with other myopathies and the ...
Nikoopour, R., Gautel, Mathias, Domínguez-González, Cristina, Hobbiebrunken, Elke, Moore, Steven A, Daimagüler, H-S, Pfuhl, M., Oates, Emily C., Kho, Ay Lin, Rees, M., Grover, Sarah, Sarkozy, A, Oates, Emily C, Özdemir, Ö., Bodi, I, Quinlivan, R, Wilichowski, E, Rees, Martin, Muntoni, F., Jungbluth, H., Tirupathi, Sandya, Moore, Steven A., Brandmeier, Birgit, Farrugia, ME, Pfuhl, Mark, Oates, Emily, Erasmus, Corrie, Reimann, J., Voermans, N.C., Wraige, Elizabeth, Phadke, Rahul, Konersman, C., Oates, Emily, C, Dekomien, Gabriele, Schröder, R, Kho, AL, Nikoopour, Roksana, Fluss, Joel Victor, Matthews, E, Richard, I, Ferreiro, A, van den Bergh, Peter, Longman, C, Özdemir, Ö, Sarkozy, A., Fernandez-Garcia, Miguel, Moore, Steven, A, Deshpande, C, Tirupathi, S, Ferreiro, Ana, Fernandez-Garcia, Miguel A., Kamsteeg, E-J, Sarkozy, Anna, Hanna, M., Hanna, Michael, Bodi, I., Deshpande, C., Thiel, C, Voermans, Nicol, Fukuzawa, Atsushi, Wilichowski, Ekkehard, Quinlivan, Ros, Fukuzawa, A, Dekomien, G., Farrugia, Maria Elena, Deshpande, Charu, Holt, M, Oates, E.C., Longman, Cheryl, Schröder, Rolf, Kamsteeg, Erik-Jan, Dekomien, G, Matthews, E., Richard, Isabelle, Wraige, E., Farrugia, M.E., Bergh, P., Grosmann, Carla, Fluss, Joël, Domínguez-González, C., Jungbluth, Heinz, Richard, I., Daimagüler, Hülya-Sevcan, Mckee, Shane, Nikoopour, R, Domínguez-González, C, Oates, EC, Erasmus, C, Muntoni, Francesco, Konersman, C, Holt, M., Thiel, Christian, Longman, C., Moore, Steven, Fluss, J., Grover, S, Moore, SA, Voermans, N, Fernandez-Garcia, Miguel A, Gautel, M., Fernandez-Garcia, Miguel, A, Konersman, Chaminda, Rees, M, Cirak, S, Reimann, Jens, Kamsteeg, E.J., Muntoni, F, Grosmann, C, Van den Bergh, P, Holt, Mark, Erasmus, C.E., Schröder, R., Wilichowski, E., Ferreiro, A., Phadke, R, Moore, S.A., Pfuhl, M, Jungbluth, H, Matthews, Emma, Brandmeier, B., Grover, S., Brandmeier, B, Cirak, S., Özdemir, Özkan, Quinlivan, R., Bodi, Istvan, Fukuzawa, A., Tirupathi, S., Fernandez-Garcia, MA, Hobbiebrunken, E., Phadke, R., Gautel, M, Daimagüler, H.S., Reimann, J, Fluss, J, Grosmann, C., Kho, A.L., Fernandez-Garcia, M.A., Hanna, M, McKee, S, Cirak, Sebahattin, Wraige, E, McKee, S., Hobbiebrunken, E   +143 more
core   +2 more sources

-associated triadopathy presenting with myalgia, muscle weakness, and asymptomatic hyperCKemia

Therapeutic Advances in Neurological Disorders
CACNA1S variants can alter the structure and function of the calcium channel, resulting in abnormal calcium influx and homeostasis. It is well established that pathogenic variants in CACNA1S can lead to hypokalemic periodic paralysis, malignant ...
Si Luo, Min Zhu, Dandan Tan, Yusen Qiu, Meihong Zhou, Daojun Hong   +5 more
doaj   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source