Results 71 to 80 of about 1,941 (150)

First Two Case Reports of Becker’s Type Myotonia Congenita in Colombia: Clinical and Genetic Features

The Application of Clinical Genetics, 2021
Jorge Andres Olave-Rodriguez,1 Francisco Javier Bonilla-Escobar,2– 4 Estephania Candelo,5,6 Lisa Ximena Rodriguez-Rojas1,7 1Universidad Icesi, Faculty of Health Sciences, Cali, Colombia; 2Somos Ciencia al Servicio de la Comunidad, Fundación SCISCO ...
Olave-Rodriguez JA, Bonilla-Escobar FJ, Candelo E, Rodriguez-Rojas LX   +3 more
doaj  

An expansion in the ZNF9 gene causes PROMM in a previously described family with an incidental CLCN1 mutation [PDF]

Journal of Neurology, Neurosurgery & Psychiatry, 2004
In 1997 Mastaglia et al described a two generation family of Macedonian origin with phenotypic features of PROMM and an incidental CLCN1 mutation.1 Affected individuals had mild myotonia, predominantly proximal muscle weakness, and cataracts, compatible with a diagnosis of proximal myotonic myopathy (PROMM).
openaire   +1 more source

New Horizons in Myotonic Dystrophy Type 1: Cellular Senescence as a Therapeutic Target

BioEssays, Volume 47, Issue 3, March 2025.
Cellular senescence accumulates in the skeletal muscle of patients with myotonic dystrophy Type 1, leading to the production of senescence‐associated secretory phenotype (SASP) factors that have detrimental effects. Targeting these senescent cells with senotherapeutics could restore muscle homeostasis and slow disease progression.
Cécilia Légaré, J. Andrew Berglund, Elise Duchesne, Nicolas A. Dumont   +3 more
wiley   +1 more source

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  

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

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  

Editorial: New Insights in Skeletal Muscle Channelopathies - A Rapidly Expanding Field

Frontiers in Neurology, 2020
Lorenzo Maggi, Emma Matthews, Emma Matthews, Jean-François Desaphy   +3 more
doaj   +1 more source