Results 61 to 70 of about 39,732 (154)

A recurrent case of SCN4A related Paramyotonia congenita in two Korean brothers: a case report

Annals of Clinical Neurophysiology
From
Min-Sung Kang, Sohyeon Kim, Hyungseok Hah, H. Seok, Jin-Sung Park   +4 more
semanticscholar   +1 more source

Paramyotonia Congenita with Persistent Distal and Facial Muscle Weakness: A Case Report with Literature Review

Journal of Neuromuscular Diseases, 2019
Background: Paramyotonia congenita (PC; OMIM 168300) is a non-dystrophic myotonia caused by mutations in the SCN4A gene. Transient muscle stiffness, usually induced by exposure to cold and aggravated by exercise, is the predominant clinical symptom, and ...
T. Taminato, M. Mori-Yoshimura, J. Miki, R. Sasaki, Noriko Sato, Y. Oya, I. Nishino, Yuji Takahashi   +7 more
semanticscholar   +1 more source

Myotonia congenita in a Greek cohort: Genotype spectrum and impact of the CLCN1:c.501C > G variant as a genetic modifier

Muscle &Nerve, Volume 70, Issue 2, Page 240-247, August 2024.
Abstract Introduction/Aims Myotonia congenita (MC) is the most common hereditary channelopathy in humans. Characterized by muscle stiffness, MC may be transmitted as either an autosomal dominant (Thomsen) or a recessive (Becker) disorder. MC is caused by variants in the voltage‐gated chloride channel 1 (CLCN1) gene, important for the normal ...
Nikolaos M. Marinakis, Maria Svingou, Giorgos‐Konstantinos Papadimas, Constantinos Papadopoulos, Elisabeth Chroni, Roser Pons, Evangelos Pavlou, Ioannis Sarmas, Konstantina Kosma, Paraskevi Apostolou, Christalena Sofocleous, Joanne Traeger‐Synodinos, Kyriaki Kekou   +12 more
wiley   +1 more source

Skeletal muscle: molecular structure, myogenesis, biological functions, and diseases

MedComm, Volume 5, Issue 7, July 2024.
The article systematically and comprehensively reviews the physiological and pathological processes associated with skeletal muscles from five perspectives: molecule basis, myogenesis, biological function, poststimulation response, and myopathy. We primarily focus on nuclei‐related behaviors of skeletal muscle, cell–cell fusion, and nuclei migration in
Lan‐Ting Feng, Zhi‐Nan Chen, Huijie Bian   +2 more
wiley   +1 more source

Temperature-sensitive Mutations in the Iii-iv-cytoplasmic Loop Region of the Skeletal-muscle Sodium-channel Gene in Paramyotonia-congenita

, 1992
Paramyotonia congenita (PMC), a dominant disorder featuring cold-induced myotonia (muscle stiffness), has recently been genetically linked to a candidate gene, the skeletal muscle sodium channel gene SCN4A.
Rao, K., McKenna-Yasek, Diane, Rao, Keshav, Brown, Robert H, Gusella, James F, Pericakvance, MA., Raskind, W., Dumoulin, Christine, Raskind, Wendy, Mcclatchey, AI., Van den Bergh, Peter, Mckennayasek, D., Haines, JL., Brown, RH., Gusella, JF., Bird, Thomas, Haines, Jonathan L, Pericak-Vance, Margaret A, Bird, T., McClatchey, Andrea I, Verellen, Christine   +20 more
core   +1 more source

Contractile properties and magnetic resonance imaging‐assessed fat replacement of muscles in myotonia congenita

European Journal of Neurology, Volume 31, Issue 4, April 2024.
Abstract 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
Laura Nørager Jacobsen, Mads Godtfeldt Stemmerik, Sofie Vinther Skriver, Jonas Jalili Pedersen, Nicoline Løkken, John Vissing   +5 more
wiley   +1 more source

A mutation in a functional Sp1 binding site of the telomerase RNA gene (hTERC) promoter in a patient with Paroxysmal Nocturnal Haemoglobinuria [PDF]

, 2004
Background<br/><br/> Mutations in the gene coding for the RNA component of telomerase, hTERC, have been found in autosomal dominant dyskeratosis congenita (DC) and aplastic anemia.
Ulku, B., Bessler, M., Bilsland, A., Mason, Philip J, Vulliamy, T., Serakinci, Nedime, Dokal, I., Ar, C., Ar, C, Marrone, Anna, Dokal, Inderjeet, Ulku, B, Bessler, Monica, Erzik, C, Serakinci, N, Serakinci, N., Marrone, A, Zhao, Jiangqin, Zhao, J, Dokal, I, Bilsland, A, Mason, PJ, Bilsland, Alan, Ulku, Birsen, Keith, W.N., Bessler, M, Vulliamy, T, Vulliamy, Tom, Keith, W Nicol, Erzik, Can, Marrone, A., Erzik, C., Zhao, J., Mason, P.J., Ar, Cem, Keith, WN, Tom Vulliamy, Alan Bilsland, W Nicol Keith, Jiangqin Zhao, Monica Bessler, Anna Marrone, Inderjeet Dokal, Nedime Serakinci, Philip J Mason, Cem Ar, Can Erzik, Birsen Ulku   +47 more
core   +2 more sources

SCN4A-related congenital myopathy in a Han Chinese patient: A case report and literature review

Heliyon
SCN4A mutations have been shown to be associated with myotonia, paramyotonia congenita, and periodic paralyses. More recently, loss-of-function variants in the SCN4A gene were also noted to be associated with rarer, autosomal recessive forms of ...
Tina Yee-Ching Chan, Ling-Yin Hung, Tiffany Yan-Lok Lam, Bun Sheng, Frank Ying-Kit Leung, Hencher Han-Chih Lee   +5 more
doaj   +1 more source

Antibodies to acetylcholine receptor in parous women with myasthenia: evidence for immunization by fetal antigen [PDF]

, 2002
The weakness in myasthenia gravis (MG) is mediated by autoantibodies against adult muscle acetylcholine receptors (AChR) at the neuromuscular junction; most of these antibodies also bind to fetal AChR, which is present in the thymus.
Wilcox, Nick, Matthews, I, Stott, David, Ledwidge, S, Vincent, Angela, Willcox, N, Beeson, David, Vincent, A, Sims, G, Stott, D, Matthews, Ian, Sims, Gary, Ledwidge, Serena, Beeson, D   +13 more
core   +1 more source

Skeletal muscle in paramyotonia congenita:biochemistry, histochemistry and morphology

, 1985
In 12 patients with paramyotonia congenita, percutaneous needle biopsies from the brachial biceps muscle were performed. Muscle fibre area, distribution of muscle fibre types I, II-A and II-B and capillarization were not different from healthy controls ...
Johnsen, T, Paulson, O B, Saltin, B, Friis, M L   +3 more
core   +1 more source