Results 111 to 120 of about 2,738 (205)

Abnormal splicing switch of DMD's penultimate exon compromises muscle fibre maintenance in myotonic dystrophy [PDF]

, 2015
International audienceMyotonic Dystrophy type 1 (DM1) is a dominant neuromuscular disease caused by nuclear-retained RNAs containing expanded CUG repeats.
Allamand, Valérie, Arandel, Ludovic, Athanasopoulos, Takis, Delalande, Olivier, Dickson, George, Dingli, Florent, Ferry, Arnaud, Furling, Denis, Jollet, Arnaud, Kabashi, Edor, Koo, Taeyoung, Lainé, Jeanne, Le Rumeur, Elisabeth, Lee, Kuang-Yung, Loew, Damarys, Lorain, Stéphanie, Marie, Joëlle, Peccate, Cécile, Ramanoudjame, Laetitita, Rau, Frédérique, Swanson, Maurice S   +20 more
core   +3 more sources

Compound heterozygous mutations in the muscle chloride channel gene (CLCN1) in a Japanese family with Thomsen’s disease

Rinsho Shinkeigaku, 2013
Autosomal-dominant type of myotonia (Thomsen's disease) and autosomal-recessive one (Becker's disease) are caused by mutations in the skeletal muscle voltage-gated chloride channel gene (CLCN1). Clinical manifestation of the diseases ranges from minimum to severely disabling myotonia.
Ryogen, Sasaki, Masanori P, Takahashi, Yosuke, Kokunai, Masaaki, Hirayama, Toru, Ibi, Hidekazu, Tomimoto, Hideki, Mochizuki, Ko, Sahashi   +7 more
openaire   +3 more sources

Clinical Diversity of SCN4A-Mutation-Associated Skeletal Muscle Sodium Channelopathy [PDF]

, 2009
BACKGROUND AND PURPOSE: Mutations of the skeletal muscle sodium channel gene SCN4A, which is located on chromosome 17q23-25, are associated with various neuromuscular disorders that are labeled collectively as skeletal muscle sodium channelopathy.
Bulman, Cannon, Dae-Seong Kim, George, George, Hyang-Sook Kim, Kyu-Hyun Park, Lerche, McClatchey, McClatchey, Mitrović, Moon, Orrell, Plassart, Ptacek, Ptácek, Rosenfeld, Rüdel, Sang-Chan Lee, Schoser, Stenson, Trip, Tsujino, Wu, Yeong-Eun Park, Young-Chul Choi   +25 more
core   +2 more sources

Physiology and Pathophysiology of CLC-1: Mechanisms of a Chloride Channel Disease, Myotonia [PDF]

, 2011
The CLC-1 chloride channel, a member of the CLC-channel/transporter family, plays important roles for the physiological functions of skeletal muscles. The opening of this chloride channel is voltage dependent and is also regulated by protons and chloride
Chen, Tsung-Yu, Tang, Chih-Yung
core   +4 more sources

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

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  

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  

HTS-Compatible Patient-Derived Cell-Based Assay to Identify Small Molecule Modulators of Aberrant Splicing in Myotonic Dystrophy Type 1 [PDF]

Myotonic dystrophy type 1 (DM1) is a genetic disorder characterized by muscle wasting, myotonia, cataracts, cardiac arrhythmia, hyperinsulinism and intellectual deficits, and is caused by expansion of a CTG repeat in the 3’UTR of the Dystrophia Myotonica-
Brinker, Achim, Caldwell, Jeremy S., Chow, Siu-Kei, Engels, Ingo H., Garcia, Michael E., O’Leary, Debra A., Schmedt, Christian, Sharif, Orzala, Sigal, Yury J., Vargas, Leonardo   +9 more
core   +2 more sources

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

Miotonia canina hereditária: características clínicas, eletromiográficas e estudo molecular no gene CLCN1

, 2019
Pós-graduação em Medicina Veterinária ...
openaire   +1 more source