Results 91 to 100 of about 10,028,553 (168)

Zebrafish deficient for Muscleblind-like 2 exhibit features of myotonic dystrophy

Disease Models & Mechanisms, 2011
SUMMARY Myotonic dystrophy (DM; also known as dystrophia myotonica) is an autosomal dominant disorder that affects the heart, eyes, brain and endocrine system, but the predominant symptoms are neuromuscular, with progressive muscle weakness and wasting ...
Laura E. Machuca-Tzili, Sarah Buxton, Aaran Thorpe, Cathy M. Timson, Peter Wigmore, Pradeep K. Luther, J. David Brook   +6 more
doaj   +1 more source

Clinical and molecular diagnosis of a Costa Rican family with autosomal recessive myotonia congenita (Becker disease) carrying a new mutation in the CLCN1 gene

Revista de Biología Tropical, 2008
Myotonia congenita is a muscular disease characterized by myotonia, hypertrophy, and stiffness. It is inherited as either autosomal dominant or recessive known as Thomsen and Becker diseases, respectively.
Fernando Morales, Patricia Cuenca, Gerardo del Valle, Melissa Vásquez, Roberto Brian, Mauricio Sittenfeld, Keith Johnson, Xi Lin, Tetsuo Ashizawa   +8 more
doaj  

Understanding the Impact of Non-Dystrophic Myotonia on Patients and Caregivers: Results from a Burden of Disease Healthcare Survey

European Medical Journal, 2021
Non-dystrophic myotonias (NDM) manifest as delayed muscle relaxation leading to muscle stiffness. This may diminish or worsen with repeated contractions, depending on NDM subtype.
Jordi Diaz-Manera, Channa Hewamadduma, Giovanni Meola, Federica Montagnese, Sabrina Sacconi, Philipp von Gallwitz, Ulrike Nowak, Robert Pleticha, Alla Zozulya Weidenfeller   +8 more
doaj  

Novel muscle chloride channel (CLCN1) mutations in myotonia congenita with various modes of inheritance including incomplete dominance and penetrance

, 1998
Autosomal-dominant and -recessive myotonia congenita are caused by mutations in the skeletal muscle voltage-gated chloride channel gene (CLCN1). We searched for mutations in this gene in 20 unrelated families with myotonia congenita.
Jentsch, T.J., Plassart-Schiess, E., Pouget, J., Eymard, B., Gervais, A., Warter, J.M., Fontaine, B., Lagueny, A., Fardeau, M.   +8 more
core  

Gene Therapy for Allergic Diseases

, 2010
Allergic diseases, such as allergic asthma, allergic rhinitis, atopic dermatitis, conjunctivitis, urticaria, food allergy, and/or anaphylaxis, are associated with the skewing of immune responses towards a T helper 2 ( TH2) phenotype, resulting in ...
莊雅惠;楊曜旭;江伯倫, CHUANG, YA-HUI;YANG, YAO-HSU;CHIANG, BOR-LUEN   +1 more
core   +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 and Nerve
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.
Nikolaos M. Marinakis, M. Svingou, G. Papadimas, Constantinos Papadopoulos, E. Chroni, Roser Pons, E. Pavlou, Ioannis Sarmas, K. Kosma, Paraskevi Apostolou, C. Sofocleous, J. Traeger-Synodinos, K. Kekou   +12 more
semanticscholar   +1 more source

Exome-wide comparative analyses revealed differentiating genomic regions for performance traits in Indian native buffaloes

Animal Biotechnology
In India, 20 breeds of buffalo have been identified and registered, yet limited studies have been conducted to explore the performance potential of these breeds, especially in the Indian native breeds.
Vishakha Uttam, Vikas Vohra, Supriya Chhotaray, Ameya Santhosh, Vikas Diwakar, Vaibhav Patel, Rajesh Kumar Gahlyan   +6 more
doaj   +1 more source

Idiopathic generalized epilepsy in a family with SCN4A‐related myotonia

Epilepsia Open
Objectives Myotonia is a clinical sign typical of a group of skeletal muscle channelopathies, the non‐dystrophic myotonias. These disorders are electrophysiologically characterized by altered membrane excitability, due to specific genetic variants in ...
Mariagrazia Talarico, Francesco Fortunato, Audrey Labalme, Louis Januel, Nicolas Chatron, Damien Sanlaville, Ilaria Sammarra, Monica Gagliardi, Radha Procopio, Paola Valentino, Grazia Annesi, Gaetan Lesca, Antonio Gambardella   +12 more
doaj   +1 more source

Identification and Functional Characterization of CLCN1 Mutations Found in Nondystrophic Myotonia Patients

, 2016
Mutations in the gene coding for the skeletal muscle Cl− channel (CLCN1) lead to dominant or recessive myotonia. Here, we identified and characterized CLCN1 mutations in Costa Rican patients, who had been clinically diagnosed with myotonic dystrophy type
Morales Montero, Fernando, Estevez Povedano, Raúl, Push, Michael, Cuenca Berger, Patricia, Vindas Smith, Rebeca, Fiore, Michele, Vásquez Cerdas, Melissa, Lagostena, Laura, del Valle Carazo, Gerardo, Gaitán Peñas, Héctor   +9 more
core   +1 more source

Domestic cats genotyped for the CLCN1 mutation associated with myotonia congenita.

, 2014
Domestic cats genotyped for the CLCN1 mutation associated with myotonia congenita.
Rob J. Daniel (652006), Melanie D. Youngs (652007), Stacey B. Leach (652008), Ling T. Guo (84296), Boyd R. Jones (106691), Leslie A. Lyons (106603), Dennis P. O'Brien (241639), Barbara Gandolfi (106586), G. Diane Shelton (84300)   +8 more
core   +1 more source