Results 101 to 110 of about 17,793 (220)

SOD1 p.D12Y variant is associated with ALS/distal myopathy spectrum

, 2020
BACKGROUND: The aim of our study was to describe patients with the p.D12Y variant (previously reported as D11Y) in SOD1 disclosing heterogeneous clinicopathological features.
Lattante, Serena, Ragozzino, Elvira, Sabatelli, Mario, Marangi, Giuseppe, Zollino, Marcella, Tasca, Giorgio   +5 more
core   +1 more source

Novel MYL1 Intron Variant With Expanded Phenotype

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1378-1383, June 2026.
ABSTRACT Congenital myopathy‐14 (CMYO14) is an ultrarare autosomal recessive disorder caused by biallelic variants in MYL1, with only four patients reported to date. We describe what is likely the fifth reported patient, a neonate with severe hypotonia, respiratory insufficiency, and skeletal anomalies showing distinct histological changes of skeletal ...
Maria Barington, Marie Balslev‐Harder, Thomas Krag, Thomas van Overeem Hansen, Camilla Bernt Wulff, Ulrik Lausten‐Thomsen, Tina Duelund Hjortshøj, Elsebet Østergaard   +7 more
wiley   +1 more source

PACS2 Alleviates Sepsis‐Induced Myopathy by Activating ERK–MAPK Signalling Pathway to Suppress ER‐Phagy

Journal of Cachexia, Sarcopenia and Muscle, Volume 17, Issue 3, June 2026.
ABSTRACT Background Sepsis‐induced myopathy (SIM) is a common and life‐threatening complication, but its underlying mechanisms remain poorly understood. PACS2, a key resident protein at mitochondria‐associated endoplasmic reticulum membranes (MAMs), regulates ER homeostasis under various pathological conditions.
Xuexin Li, Zu‐an Shi, Fei He, Guo Mu, Feixiang Wang, Bowen Sun, Xiaobin Wang, Li Liu   +7 more
wiley   +1 more source

Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy

, 2018
Introduction Protein aggregation is a common cause of neuropathology. The protein aggregation myopathy Limb-Girdle Muscular Dystrophy 1D (LGMD1D) is caused by mutations of amino acids Phe89 or Phe93 of DNAJB6, a co-chaperone of the HSP70 ...
Ruggieri, Alessandra, Federici, Luca, Mora, Marina, Scherer, Stephen W, Novelli, Giuseppe, Antozzi, Carlo, Marshall, Christian R, Minassian, Berge A, Zanotti, Simona, Massa, Roberto, Pasanisi, Maria B, Terracciano, Chiara, D′Apice, Maria R, Saredi, Simona, Brancati, Francesco, Morandi, Lucia, Maggi, Lorenzo, Sangiuolo, Federica   +17 more
core   +1 more source

Hypertrophic Cardiomyopathy Complicated by Post-COVID-19 Myopericarditis in Patient with ANO5-Related Distal Myopathy. [PDF]

Genes (Basel), 2023
Blagova O, Lutokhina Y, Vukolova M, Pirozhkov S, Sarkisova N, Ainetdinova D, Das A, Krot M, Smolyannikova V, Litvitsky P, Zaklyazminskaya E, Kogan E.   +11 more
europepmc   +1 more source

Electrophysiological Substrate and Ablation Outcomes in Atrial Fibrillation With Hypertrophic Cardiomyopathy: A Propensity‐Matched Multicenter Study

Journal of Arrhythmia, Volume 42, Issue 3, June 2026.
Multicentre retrospective propensity‐score‐matched cohort study (n = 286; 3 centres, Pakistan; 2015‐2023) comparing electrophysiological substrate and 12‐month ablation outcomes in patients with atrial fibrillation and hypertrophic cardiomyopathy (HCM‐AF, red) versus lone atrial fibrillation (Lone AF, green; 1:1 PSM on 14 covariates).
Umair Abrar, Fazal Ghaffar, Muhammad Zuhaid, Huzaifa Bin Afzaal, Palwasha Abbasi, Muhammad Hasnain Iqbal, Moʻminov Jahongir Zokirjon oʻgʻli, Sifat Ullah Safi   +7 more
wiley   +1 more source

Can diabetic peripheral neuropathy influence the final outcome of physical performance after a combined training program in older adults? A double‐blind quasi‐experimental study

Physiological Reports, Volume 14, Issue 11, June 2026.
Illustration of the main findings of the study. Abstract This study investigated the influence of diabetic peripheral neuropathy (DPN) on physical performance in older adults with type 2 diabetes mellitus (T2DM) following a combined training (CT) program. A total of 51 older adults participated in the study divided into DPN (n = 24) and non‐DPN (n = 27)
Matheus Henrique dos Santos Lino, Marcus Vinicius Grecco, Eneida Yuri Suda, Sara Rodrigues Rosado, André Luiz de Seixas Soares, Adriana Machado Saldiba de Lima, Guilherme Carlos Brech, Julia Maria D'Andréa Greve, Angelica Castilho Alonso   +8 more
wiley   +1 more source

When myopathy breaks the rules: A late-onset distal presentation

, 2015
Myopathies typically present with proximal or generalised muscle weakness, but it is important for clinicians to recognise they may also have other distributions.
Newby, R (15745268), Jane Alty (14730310), Udd, B (15773723), Jamieson, S (15604685)   +3 more
core  

Cystinosis distal myopathy, novel clinical, pathological and genetic features

, 2017
Nephropathic cystinosis is an autosomal recessive lysosomal disease in which cystine cannot exit the lysosome to complete its degradation in the cytoplasm, thus accumulating in tissues.
Macarena Cabrera-Serrano, Weihl, Conrad C, Ali Alisheri, Conrad C. Weihl, Junckerstorff, Reimar C, Cabrera-Serrano, Macarena, Alisheri, Ali, Reimar C. Junckerstorff, Phillipa J. Lamont, Nigel G. Laing, Alan Pestronk, Laing, Nigel G, Lamont, Phillipa J, Pestronk, Alan   +13 more
core   +1 more source

The frequent variant A57F in the GNE gene in patients from Russia has Finno-Ugric Mari origin

Frontiers in Genetics
IntroductionGNE-myopathy is a distal myopathy with adult-onset and initial involvement of anterior leg compartment. A founder effect has been demonstrated for some patients from several large cohorts in different countries.MethodsIn this study, we ...
Dmitrii Subbotin, Sofya Ionova, Andrey Marakhonov, Elena Saifullina, Artem Borovikov, Leila Akhmadeeva, Polina Chausova, Oksana Ryzhkova, Rena Zinchenko, Sergey Kutsev, Aysylu Murtazina   +10 more
doaj   +1 more source