Results 91 to 100 of about 314,455 (204)

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2350-2356, October 2026.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

Metabolic and Mitochondrial Myopathies

, 2023
Metabolic and mitochondrial myopathies are genetic disorders that cause muscle disease due to a deficiency in energy metabolism. Particularly, lipid and carbohydrate metabolism disorders cause myopathy.
Diniz, Gülden, Canda, Ebru Erbaş, Köse, Melis Demir   +2 more
core   +1 more source

Anti‐U1‐RNP‐Positive Inflammatory Myopathy Presenting With Dysphagia: A Case Report

Clinical Case Reports, Volume 14, Issue 10, October 2026.
ABSTRACT High‐titer anti‐U1‐RNP antibodies may present with myopathy without fulfilling MCTD criteria. We report a 38‐year‐old woman with proximal weakness, elevated muscle enzymes, anti‐U1‐RNP positivity, and inflammatory myopathy on EMG/MRI, but lacking classic overlap features.
Anjlee, Sana Rasheed, Moosa Ashfaq, Simran Bai, Ali Jan Yaqubi, Ahmed Asad Raza   +5 more
wiley   +1 more source

Annelid Distal-less/Dlx duplications reveal varied post-duplication fates [PDF]

, 2011
Additional files can be viewed at http://www.biomedcentral.com/1471-2148/11/241/additional/ "Work in the authors’ laboratory is supported by the BBSRC and the School of Biology, University of St Andrews"Background: Dlx (Distal-less) genes have various ...
Natalia Korchagina, Jonathan L Tobin, Ferrier, David E.K., Tobin, Jonathan L., McDougall, Carmel, McDougall Carmel, Ferrier, David EK, Carmel McDougall, Korchagina, Natalia, David EK Ferrier, Tobin Jonathan L, Tobin, Johnathan, Ferrier, David Ellard Keith, Ferrier David EK, Ferrier, David E. K., Tobin, Jonathan L, Korchagina Natalia   +16 more
core   +2 more sources

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

Genetic and Pharmacologic Inhibition of Myostatin Restores Muscle Mass in a Dynamin 2‐Related Centronuclear Myopathy Mouse Model

Journal of Cachexia, Sarcopenia and Muscle, Volume 17, Issue 5, October 2026.
ABSTRACT Background Autosomal dominant centronuclear myopathy (ADCNM), most commonly caused by mutations in the dynamin 2 (DNM2) gene, is a rare congenital myopathy characterized by progressive muscle weakness and atrophy. Myostatin, a key negative regulator of skeletal muscle mass, has shown therapeutic potential in several models of neuromuscular ...
Durieux Anne‐Cécile, Arnould David, Velarde Mathias, Allibert Valentine, Paret Chloé, Debelley Quentin, Kizilkilic Esra, Chambon Sidney, Girard Emmanuelle, Collin Louise, Gensel Alexandre, Castells Josiane, Pasternack Aja, Bowen Maximilien, Morel Baptiste, Hourdé Christophe, Laurent Schaeffer, Ritvos Olli, Bitoun Marc, Mounier Rémi, Freyssenet Damien   +20 more
wiley   +1 more source

Clinical, Histopathologic, and Genetic Features of Patients With Myofibrillary and Distal Myopathies

Background and Objectives The diagnostic process for myofibrillar myopathies (MFM) and distal myopathies (DM) is particularly complex because of the large number of causative genes, the existence of still molecularly undefined disease entities, and the ...
Sancricca, C, Tasca, G, Monforte, M, Maggi, L, Primiano, G, Mirabella, M, Servidei, S, Torchia, E, Ricci, E   +8 more
core   +3 more sources

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

G.P.51: Clinical and genetic characterization of distal myopathies

, 2014
Mutations in over 20 genes are associated with distal myopathies. Yet, many patients remain unresolved. To genetically characterize a cohort of distal myopathies we recruited patients with distal weakness and normal motor nerve conduction studies.
Laing, N.G., Needham, M., Lamont, P.J., Junckerstorff, R., Cabrera, M.   +4 more
core  

Current advance on distal myopathy genetics

Purpose of review Distal myopathies are a clinically heterogenous group of rare, genetic muscle diseases, that present with weakness in hands and/or feet at onset.
Udd, Bjarne, Johari, Mridul, Ranta-Aho, Johanna   +2 more
core   +1 more source