Results 61 to 70 of about 25,797 (180)

Incidence and Prevalence of Congenital Myopathies ‐ A Population‐Based Study From Western Sweden

Annals of Neurology, Volume 99, Issue 2, Page 382-392, February 2026.
Objective Congenital myopathies are a group of rare genetic muscle disorders. Previous studies have estimated point prevalences which only include surviving individuals. Our aim was to perform an epidemiological study with strict inclusion criteria, using modern diagnostic technology to present both incidences and prevalences, and to describe the ...
Eva Michael, Carola Hedberg‐Oldfors, Mar Tulinius, Sara Nordström, Anders Oldfors, Niklas Darin   +5 more
wiley   +1 more source

Myotubular/centronuclear myopathy and central core disease

, 2010
The term congenital myopathy is applied to muscle disorders presenting with generalized muscle weakness and hypotonia from early infancy with delayed developmental milestones.
Fujimura-Kiyono, Chieko, Racz, Gabor Z., Nishino, Ichizo   +2 more
core   +2 more sources

A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease course

Acta Neuropathologica Communications, 2021
The ryanodine receptor RyR1 is the main sarcoplasmic reticulum Ca2+ channel in skeletal muscle and acts as a connecting link between electrical stimulation and Ca2+-dependent muscle contraction.
Valérie Biancalana, John Rendu, Annabelle Chaussenot, Helen Mecili, Eric Bieth, Mélanie Fradin, Sandra Mercier, Maud Michaud, Marie-Christine Nougues, Laurent Pasquier, Sabrina Sacconi, Norma B. Romero, Pascale Marcorelles, François Jérôme Authier, Antoinette Gelot Bernabe, Emmanuelle Uro-Coste, Claude Cances, Bertrand Isidor, Armelle Magot, Marie-Christine Minot-Myhie, Yann Péréon, Julie Perrier-Boeswillwald, Gilles Bretaudeau, Nicolas Dondaine, Alison Bouzenard, Mégane Pizzimenti, Bruno Eymard, Ana Ferreiro, Jocelyn Laporte, Julien Fauré, Johann Böhm   +30 more
doaj   +1 more source

Disruption of Nuclear‐Cytoskeletal Linkage by Coil‐1a LMNA Mutations in Emery–Dreifuss Muscular Dystrophy

Journal of Cachexia, Sarcopenia and Muscle, Volume 17, Issue 1, February 2026.
ABSTRACT Background Emery–Dreifuss muscular dystrophy (EDMD) is a progressive genetic myopathy that mainly affects the muscles used for movement (skeletal muscles) and the heart (cardiac muscles). The disease is frequently associated with mutations in genes encoding nuclear envelope proteins, most notably LMNA, which encodes lamin A—a critical ...
So‐mi Kang, Ran Kim, Tae‐Gyun Woo, Soyoung Park, Yeongseon Ji, Ha Eun Kim, Yu Jin Jeong, Jeongmo Kim, Yeonhee Kim, Woochul Chang, Bae‐Hoon Kim, Bum‐Joon Park   +11 more
wiley   +1 more source

Dynamin 2 the rescue for centronuclear myopathy [PDF]

Journal of Clinical Investigation, 2014
Centronuclear myopathy is a lethal muscle disease. The most severe form of the disease, X-linked centronuclear myopathy, is due to mutations in the gene encoding myotubularin (MTM1), while mutations in dynamin 2 (DNM2) and amphiphysin 2/BIN1 (AMPH2) cause milder forms of myopathy.
Alexis R, Demonbreun, Elizabeth M, McNally   +1 more
openaire   +2 more sources

Miopatías congénitas

Revista Médica Clínica Las Condes, 2018
: Congenital myopathies are a group of primary hereditary, clinically and genetically heterogeneous skeletal muscle disorders, defined according to histopathologic lesions observed in muscle biopsies.
Edoardo Malfatti, MD, PhD
doaj   +1 more source

Myostatin: a Circulating Biomarker Correlating with Disease in Myotubular Myopathy Mice and Patients

Molecular Therapy: Methods & Clinical Development, 2020
Myotubular myopathy, also called X-linked centronuclear myopathy (XL-CNM), is a severe congenital disease targeted for therapeutic trials. To date, biomarkers to monitor disease progression and therapy efficacy are lacking.
Catherine Koch, Suzie Buono, Alexia Menuet, Anne Robé, Sarah Djeddi, Christine Kretz, Raquel Gomez-Oca, Marion Depla, Arnaud Monseur, Leen Thielemans, Laurent Servais, Jocelyn Laporte, Belinda S. Cowling, Mélanie Annoussamy, Andreea Seferian, Jonathan Baets, Nicole Voermans, Antony Behin, U. Schara, Adele D’Amico, Arturo Hernandez, Capucine de Lattre, Jean-Michel Arnal, Michèle Mayer, Jean-Marie Cuisset, Carole Vuillerot, Stéphanie Fontaine, Rémy Bellance   +27 more
doaj   +1 more source

Clinical and Genetic Features of MUSK‐Related Congenital Myasthenic Syndrome: A Case Series and a Proposal for Clinical Classification

Acta Neurologica Scandinavica, Volume 2026, Issue 1, 2026.
MUSK‐related congenital myasthenic syndrome (MUSK‐CMS) is a rare neuromuscular disorder caused by pathogenic variants in the MUSK gene. The phenotypic spectrum varies significantly, ranging from mild, fatigable muscle weakness to severe neonatal onset with respiratory failure.
Antonio Edvan Camelo-Filho, Henrique Alves Bezerra, Nicole Lopes Cavalcante Machado, Pedro Lucas Grangeiro Sá Barreto Lima, Pedro Braga-Neto, Eduardo de Paula Estephan, Paulo Victor Sgobbi, Maria Sheila Rocha, Cristiane Araujo Martins Moreno, Paulo Ribeiro Nóbrega, Anjali Chauhan   +10 more
wiley   +1 more source

Autosomal dominant centronuclear myopathy with unique clinical presentations [PDF]

, 2007
Centronuclear myopathies are clinically and genetically heterogenous diseases with common histological findings, namely, centrally located nuclei in muscle fibers with a predominance and hypotrophy of type 1 fibers.
Min, J. H., Lee, K. W., Lee, J. Y., Park, S. H., Park, K. S., Sung, J. J., Hong, Y. H.   +6 more
core  

Inactivating the lipid kinase activity of PI3KC2β is sufficient to rescue myotubular myopathy in mice

JCI Insight, 2023
Phosphoinositides (PIs) are membrane lipids that regulate signal transduction and vesicular trafficking. X-linked centronuclear myopathy (XLCNM), also called myotubular myopathy, results from loss-of-function mutations in the MTM1 gene, which encodes the
Xènia Massana-Muñoz, Marie Goret, Vasugi Nattarayan, David Reiss, Christine Kretz, Gaetan Chicanne, Bernard Payrastre, Bart Vanhaesebroeck, Jocelyn Laporte   +8 more
doaj   +1 more source