Results 101 to 110 of about 7,635 (221)

A novel mutation in the N-terminal acting-binding domain of Filamin C protein causing a distal myofibrillar myopathy

, 2019
Variants in Filamin C (FLNC) gene may cause either cardiomyopathies or different myopathies. We describe a family affected by a distal myopathy with autosomal dominant inheritance. The onset of the disease was in the third decade with gait impairment due
Mandich, Paola, Schenone, Angelo, Fossa, Paola, Gemelli, Chiara, Tagliafico, Alberto Stefano, Fabbri, Sabrina, Grandis, Marina., Fiorillo, Chiara, Geroldi, Alessandro, Trevisan, Lucia, Maggi, Lorenzo, Gibertini, Sara, Prada, Valeria   +12 more
core   +1 more source

Quantitative Muscle MRI of the Lower Extremities Reveals Different Patterns of Involvement in Classic Infantile and Young Late‐Onset Pompe Patients

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT With increased survival due to enzyme replacement therapy, children with classic infantile Pompe disease tend to develop a clinical phenotype with pronounced distal muscle weakness, while late‐onset patients typically exhibit proximal muscle weakness.
Jan J. A. van den Dorpel, Mechteld E. Guldemond, Kevin R. Keene, Pieter A. van Doorn, Ans T. van der Ploeg, Johanna M. P. van den Hout, Hermien E. Kan, Nadine A. M. E. van der Beek   +7 more
wiley   +1 more source

Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy

, 2014
International audienceCongenital myasthenic syndromes are a clinically and genetically heterogeneous group of rare diseases resulting from impaired neuromuscular transmission.
Chaouch, Amina, Laval, Steven H., Fontenille, Marie-Joséphine, Hantaï, Daniel, Evangelista, Teresinha, Loseth, Sissel, Cox, Daniel, Nicole, Sophie, Lochmueller, Hanns, Torbergsen, Torberg, Horn, Morten A., van Ghelue, Marijke, Barois, Annie, Eymard, Bruno, Stålberg, Erik,, Sternberg, Damien, Mueller, Juliane S., Løseth, Sissel, Griffin, Helen, Dusl, Marina, Bauché, Stéphanie, Horn, Morten, Stålberg, Erik, de Bruyckere, Elodie, Brochier, Guy, Ioos, Christine, Issop, Yasmin, Müller, Juliane, Abicht, Angela, Laval, Steven, Lochmüller, Hanns, Fournier, Emmanuel   +31 more
core   +1 more source

The Impact of Heritable Myopathies on Gastrointestinal Skeletal Muscle FunctionSummary

Cellular and Molecular Gastroenterology and Hepatology
Among other contributions to gastrointestinal (GI) function, skeletal muscles regulate transit at both ends of the GI tract by providing propulsive forces for ingested nutrients and controlling the excretion of waste products. At the oropharynx, skeletal
Aishwarya Iyer, Madeline Alizadeh, Jennifer Megan Mariano, Aikaterini Kontrogianni-Konstantopoulos, Jean-Pierre Raufman   +4 more
doaj   +1 more source

Polymorphic myopathological findings in a 77‐year‐old woman with oculo‐bulbo‐facial and distal weakness

Brain Pathology, EarlyView.
Michele Tosi, Angela Puma, Elena Faedo, Gianmarco Severa, Luisa Villa, Sabrina Sacconi, Edoardo Malfatti   +6 more
wiley   +1 more source

Emerging Upper Extremity Muscle Ultrasound Patterns as a Diagnostic Aid in TTN‐Related Myopathies

Muscle &Nerve, Volume 74, Issue 1, Page 111-120, July 2026.
ABSTRACT Introduction/Aims Biallelic pathogenic variants in TTN cause rare forms of early‐onset myopathy, manifesting with variable severity, distribution, and progression of muscle weakness, often associated with respiratory insufficiency and potentially cardiomyopathy. The large size of TTN and phenotypic heterogeneity in TTN‐related myopathy (TTN‐RM)
Abigail Potticary, Meghan McAnally, Sandra Donkervoort, Carsten G. Bönnemann   +3 more
wiley   +1 more source

Congenital Myopathies and Muscular Dystrophies: A Single Tertiary Center Experience and Factors Associated With Long‐Term Outcomes

Muscle &Nerve, Volume 74, Issue 1, Page 121-130, July 2026.
ABSTRACT Introduction/Aims Data on respiratory, feeding, ambulatory outcomes and prognostic factors for congenital myopathies (CM) and congenital muscular dystrophies (CMD) remain limited. Therefore, in this study, we report the characteristics of a large single‐center cohort of patients with CM and CMD, focusing on long‐term outcomes and aiming to ...
Can Ozlu, Margaret McGurn, Susan Iannaccone, Zurisadai Gonzalez Castillo, Kaitlin Batley   +4 more
wiley   +1 more source

Loss of Sarcomeric Scaffolding as a Common Baseline Histopathologic Lesion in Titin-Related Myopathies

, 2018
International audienceTitin-related myopathies are heterogeneous clinical conditions associated with mutations in TTN. To define their histopathologic boundaries and try to overcome the difficulty in assessing the pathogenic role of TTN variants, we ...
Thompson, Julie, D., Lacène, Emmanuelle, Cheraud, Chrystel, Beuvin, Maud, Thompson, Julie, Taratuto, Ana Lía, Hedberg-Oldfors, Carola, Böhm, Johann, Deleuze, Jean-François, Malfatti, Edoardo, Ávila-Polo, Rainiero, Eymard, Bruno, Boland, Anne, Bonne, Gisèle, Nelson, Isabelle, Thompson, Julie,, Lubieniecki, Fabiana, Nectoux, Juliette, Udd, Bjarne, Richard, Isabelle, Madelaine, Angéline, Oldfors, Anders, Thao Bui, Mai, Brochier, Guy, Romero, Norma Beatriz, Monges, Soledad, Laporte, Jocelyn, Schneider, Raphael, Lornage, Xavière, Labasse, Clémence, Leturcq, France   +30 more
core   +1 more source

Late-onset myopathies: clinical features and diagnosis

, 2020
Late-onset myopathies are not well-defined since there is no clear definition of 'late onset'. For practical reasons we decided to use the age of 40 years as a cut-off.
de Visser, Marianne
core   +1 more source

Muscle Ultrasound in Inclusion Body Myositis: Integrating Qualitative and Quantitative Approaches With Clinical and MRI Findings

Muscle &Nerve, Volume 74, Issue 1, Page 131-138, July 2026.
ABSTRACT Introduction/Aims Inclusion body myositis (IBM) is an inflammatory myopathy with an insidious onset, often making diagnosis challenging. Although neuroimaging has recently been included in diagnostic criteria, the role of muscle ultrasound—despite being a rapid and cost‐effective tool—in IBM has been less extensively characterized.
Giuseppe Di Pietro, Pietro Falco, Rocco Costanzo, Eleonora Galosi, Gianfranco De Stefano, Enrico Evangelisti, Antonio Lauletta, Caterina Leone, Daniel Litewczuk, Giulia Di Stefano, Andrea Truini, Matteo Garibaldi   +11 more
wiley   +1 more source