Results 71 to 80 of about 11,146 (222)

Flecainide binding dynamics in voltage‐gated sodium channels: A comparative isoform analysis of the state‐dependent block

British Journal of Pharmacology, EarlyView.
Background and Purpose Local anaesthetics and class I anti‐arrhythmic drugs block voltage‐gated Na+ channels, but the molecular basis for the isoform differences in drug sensitivity remains unclear. Understanding these mechanisms is essential for optimizing therapeutic efficacy and safety.
Tatsuo Munakata, Etsuko Kumada, Nao Katayama, Hiroki Nakagawa, Akihiko Sunami   +4 more
wiley   +1 more source

Genetically Confirmed Schwartz–Jampel Syndrome: An Ultra-Rare Case of Congenital Myotonia with Osteochondrodysplasia from India

International Journal of Medical Students
Background: Schwartz–Jampel syndrome is a rare autosomal recessive disorder caused by mutations in the HSPG2 gene, leading to perlecan deficiency. Perlecan is a heparan sulfate proteoglycan critical for cartilage integrity, basement membrane stability ...
Nandita Jali, Suvarna Magar, Tanya Trikha, Varsha Vaidya, Viranchi Vaidya   +4 more
doaj   +1 more source

Myotonia congenita mutation enhances the degradation of human CLC-1 chloride channels. [PDF]

PLoS ONE, 2013
Myotonia congenita is a hereditary muscle disorder caused by mutations in the human voltage-gated chloride (Cl(-)) channel CLC-1. Myotonia congenita can be inherited in an autosomal recessive (Becker type) or dominant (Thomsen type) fashion.
Ting-Ting Lee, Xiao-Dong Zhang, Chao-Chin Chuang, Jing-Jer Chen, Yi-An Chen, Shu-Ching Chen, Tsung-Yu Chen, Chih-Yung Tang   +7 more
doaj   +1 more source

Clinico-pathogenetic findings and management of chondrodystrophic myotonia (Schwartz-Jampel syndrome): a case report [PDF]

, 2003
Background Chondrodystrophic myotonia or Schwartz-Jampel syndrome is a rare genetic disorder characterized by myotonia and skeletal dysplasia. It may be progressive in nature. Recently, the gene responsible for Schwartz-Jampel syndrome has been found and
Nicola C Ho, Stacey Sandusky, Victor Madike, Clair A Francomano, Marinos C Dalakas, O Schwartz, RM Pascuzzi, S Nicole, E Arikawa-Hirasawa, D Viljoen, SA Farrell, A Giedion, E Arikawa-Hirasawa, HB Peng, E Arikawa-Hirasawa, LA Squires, M Eikermann   +16 more
core   +2 more sources

The Molecular Diagnosis of Myopathies: Integrating Genomic, Proteomic, and Pathological Insights Toward Precision Medicine

Clinical Genetics, EarlyView.
Advances in genomic, proteomic, and transcriptomic technologies are transforming the diagnosis of genetic myopathies. When integrated with traditional muscle pathology, multi‐omics approaches improve diagnostic yield, clarify disease mechanisms, and support more precise, mechanism‐based therapeutic strategies for patients with neuromuscular disorders ...
Ludmila Alem, Denise de Abreu Pereira, Katia Carneiro   +2 more
wiley   +1 more source

Possible role of SCN4A skeletal muscle mutation in apnea during seizure

Epilepsia Open, 2019
SCN4A gene mutations cause a number of neuromuscular phenotypes including myotonia. A subset of infants with myotonia‐causing mutations experience severe life‐threatening episodic laryngospasm with apnea.
Dilşad Türkdoğan, Emma Matthews, Sunay Usluer, Aslı Gündoğdu, Kayıhan Uluç, Roope Mannikko, Michael G. Hanna, Sanjay M. Sisodiya, Hande S. Çağlayan   +8 more
doaj   +1 more source

Myotonia congenita-associated mutations in chloride channel-1 affect zebrafish body wave swimming kinematics. [PDF]

PLoS ONE, 2014
Myotonia congenita is a human muscle disorder caused by mutations in CLCN1, which encodes human chloride channel 1 (CLCN1). Zebrafish is becoming an increasingly useful model for human diseases, including muscle disorders.
Wei Cheng, Jing Tian, Jean-Marc Burgunder, Walter Hunziker, How-Lung Eng   +4 more
doaj   +1 more source

An unusual presentation of osteochondrosis in the elbows and tarsi of a Friesian colt

Equine Veterinary Education, EarlyView.
Summary This case report describes the clinical, diagnostic imaging results and post‐mortem findings in a foal that underwent reassessment following surgical management of angular limb deformities (ALD) and acute onset of gait abnormalities. Upon presentation, the foal showed an abnormal stiff gait characterised by bilateral medial limb collapse during
A. Torrent‐Crosa, A. Merchán‐Muñoz, C. Co, E. Borkowski   +3 more
wiley   +1 more source

Muscleblind-Like 1 and Muscleblind-Like 3 Depletion Synergistically Enhances Myotonia by Altering Clc-1 RNA Translation

EBioMedicine, 2015
Loss of Muscleblind-like 1 (Mbnl1) is known to alter Clc-1 splicing to result in myotonia. Mbnl1ΔE3/ΔE3/Mbnl3ΔE2 mice, depleted of Mbnl1 and Mbnl3, demonstrate a profound enhancement of myotonia and an increase in the number of muscle fibers with very ...
Jongkyu Choi, Kirkwood E. Personius, Marino DiFranco, Warunee Dansithong, Carl Yu, Saumya Srivastava, Donald M. Dixon, Darshan B. Bhatt, Lucio Comai, Julio L. Vergara, Sita Reddy   +10 more
doaj   +1 more source

Molecular cloning of ion channels in Felis catus that are related to periodic paralyses in man: a contribution to the understanding of the genetic susceptibility to feline neck ventroflexion and paralysis [PDF]

, 2014
Neck ventroflexion in cats has different causes; however, the most common is the hypokalemia associated with flaccid paralysis secondary to chronic renal failure.
Castillo, Victor A., Dias-da-Silva, Magnus Régios, Kunii, Ilda Shizue, Maciel, Rui Monteiro de Barros, Paninka, Rolf M., Reche, Archivaldo, Simoes, Denise M. N., Zapata, Marlyn   +7 more
core   +4 more sources