Results 91 to 100 of about 3,195 (191)

Genetics update: monogenetics, polygene disorders and the quest for modifying genes [PDF]

, 2018
The genetic channelopathies are a broad collection of diseases. Many ion channel genes demonstrate wide phenotypic pleiotropy, but nonetheless concerted efforts have been made to characterise genotype-phenotype relationships.
Symonds, Joseph D., Zuberi, Sameer M.
core   +1 more source

Successful Diagnosis of Sengers Syndrome Using a Comprehensive Genomic Analysis

Molecular Genetics &Genomic Medicine, Volume 13, Issue 1, January 2025.
Sengers syndrome, characterized by hypertrophic cardiomyopathy, congenital cataracts, skeletal myopathy, exercise intolerance, and lactic acidosis, is caused by mutations in the AGK gene. This study reports the successful diagnosis of Sengers syndrome using comprehensive genomic analysis, identifying both a known pathogenic AGK variant and a previously
Kohta Nakamura, Yukiko Yatsuka, Sachie Naito, Akira Hasegawa, Takeya Kasukawa, Atsushi Kondo, Yoshihito Kishita, Yohei Sugiyama, Takanori Onuki, Tomohiro Ebihara, Tomoko Tsuruoka, Takuya Fushimi, Akira Ohtake, Kei Murayama, Atsuko Imai‐Okazaki, Yasushi Okazaki   +15 more
wiley   +1 more source

A Novel Missense Mutation in CLCN1 Gene in a Family with Autosomal Recessive Congenital Myotonia

Iranian Journal of Medical Sciences, 2016
Congenital recessive myotonia is a rare genetic disorder caused by mutations in CLCN1, which codes for the main skeletal muscle chloride channel ClC-1. More than 120 mutations have been found in this gene.
Mohammad Miryounesi, Soudeh Ghafouri-Fard, Majid Fardaei   +2 more
doaj  

Mécanismes et conséquences des mutations [PDF]

, 2005
L’identification des mutations à l’origine de maladies génétiques chez l’homme a pris ces dernières années un essor considérable. Il est devenu possible d’établir le spectre des mutations délétères pour une maladie génétique donnée, et des bases de ...
Hanna, Nadine, Parfait, Béatrice, Vidaud, Dominique, Vidaud, Michel   +3 more
core   +1 more source

Anesthesia Experience in a Patient with Myotonia Congenita

Bagcilar Medical Bulletin, 2019
Myotonia congenita (MC) was first described as a skeletal muscle disorder by Thomsen in 1876. As a result of the mutation of the chloride channel gene (CLCN1), which is on the 17th chromosome, patients suffer from muscle contractility and fatigue ...
Yeşim Cokay Abut, Serkan Şimşek, Seher Köse, Şenay Kırgezen, Kübra Bolat, Veysel Erden   +5 more
doaj   +1 more source

MiRP2 forms potassium channels in skeletal muscle with Kv3.4 and is associated with periodic paralysis. [PDF]

, 2001
The subthreshold, voltage-gated potassium channel of skeletal muscle is shown to contain MinK-related peptide 2 (MiRP2) and the pore-forming subunit Kv3.4.
Abbott, GW, Bendahhou, S, Butler, MH, Dalakas, MC, Goldstein, SA, Ptacek, LJ   +5 more
core  

Novel mutations in human and mouse SCN4A implicate AMPK in myotonia and periodic paralysis [PDF]

, 2014
Mutations in the skeletal muscle channel (SCN4A), encoding the Nav1.4 voltage-gated sodium channel, are causative of a variety of muscle channelopathies, including non-dystrophic myotonias and periodic paralysis. The effects of many of these mutations on
Acevedo-Arozena, Abraham, Amato, Anthony A., Amior, Neta, Bentley, Liz, Blanco, Gonzalo, Brown, Steve D. M., Carter, Sarah, Corrochano, Silvia, Cortese, Andrea, Cox, Roger, Dick, James, Fratta, Pietro, Greensmith, Linda, Hanna, Michael G., Healy, Estelle G., Hutchinson, Marie, Joyce, Peter I., Koltzenburg, Martin, Lassi, Glenda, Liavas, Andrianos, Lionikas, Arimantas, McGoldrick, Philip, Männikkö, Roope, Quinn, Colin, Raja Rayan, Dipa L., Stewart, Michelle, Tucci, Valter, Wackerhage, Henning, Wettstein, Jessica   +28 more
core   +2 more sources

In a cohort of 961 clinically suspected Duchenne muscular dystrophy patients, 105 were diagnosed to have other muscular dystrophies (OMDs), with LGMD2E (variant SGCB c.544A>C) being the most common

Molecular Genetics &Genomic Medicine, Volume 12, Issue 11, November 2024.
All the LGMDs molecularly confirmed in this study were the ones clinically suspected to be DMD/BMD. Here in this study, we have attempted to understand age at onset in the patients, could be a differentiating factor to distinguish DMD/BMD from other muscular dystrophies.
Priya Karthikeyan, Shalini H. Kumar, Arati Khanna‐Gupta, Lakshmi Bremadesam Raman   +3 more
wiley   +1 more source

Defective Gating and Proteostasis of Human ClC-1 Chloride Channel: Molecular Pathophysiology of Myotonia Congenita

Frontiers in Neurology, 2020
The voltage-dependent ClC-1 chloride channel, whose open probability increases with membrane potential depolarization, belongs to the superfamily of CLC channels/transporters. ClC-1 is almost exclusively expressed in skeletal muscles and is essential for
Chung-Jiuan Jeng, Chung-Jiuan Jeng, Ssu-Ju Fu, Ssu-Ju Fu, Chia-Ying You, Yi-Jheng Peng, Cheng-Tsung Hsiao, Cheng-Tsung Hsiao, Tsung-Yu Chen, Chih-Yung Tang, Chih-Yung Tang   +10 more
doaj   +1 more source

Phosphorylation and protonation of neighboring MiRP2 sites: function and pathophysiology of MiRP2-Kv3.4 potassium channels in periodic paralysis. [PDF]

, 2006
MinK-related peptide 2 (MiRP2) and Kv3.4 subunits assemble in skeletal muscle to create subthreshold, voltage-gated potassium channels. MiRP2 acts on Kv3.4 to shift the voltage dependence of activation, speed recovery from inactivation, suppress ...
Abbott, Geoffrey W, Butler, Margaret H, Goldstein, Steve AN   +2 more
core   +1 more source