Results 111 to 120 of about 2,733 (194)

Evaluating the effects of CELF1 deficiency in a mouse model of RNA toxicity. [PDF]

, 2013
International audienceMyotonic dystrophy type 1 (DM1), the most common form of adult-onset muscular dystrophy, is caused by an expanded (CTG)n repeat in the 3' untranslated region of the DM protein kinase (DMPK) gene.
Kim, Yun Kyoung, Mahadevan, Mani S, Mandal, Mahua, Paillard, Luc, Yadava, Ramesh S   +4 more
core   +6 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

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  

Improving genetic diagnostics of skeletal muscle channelopathies [PDF]

, 2020
Introduction: Skeletal muscle channelopathies are rare inherited conditions that cause significant morbidity and impact on quality of life. Some subsets have a mortality risk.
Hanna, MG, Mannikko, R, Matthews, E, Vivekanandam, V   +3 more
core  

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

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

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

Muscle channelopathies and electrophysiological approach

Annals of Indian Academy of Neurology, 2008
Myotonic syndromes and periodic paralyses are rare disorders of skeletal muscle characterized mainly by muscle stiffness or episodic attacks of weakness.
Cherian Ajith, Baheti Neeraj, Kuruvilla Abraham   +2 more
doaj