Results 11 to 20 of about 43,935 (132)

GNE myopathy with premature ovarian failure: Case report and review of the literature [PDF]

Molecular Genetics and Metabolism Reports
GNE myopathy (GNE-M) is an ultra-rare disease characterized by muscle weakness in the extremities. The main etiology is that a pathogenic variation in the GNE gene leads to a reduction in sialic acid synthesis.
Shangyi Yang, Jine Yang
doaj   +2 more sources

Clinical and genetic characteristics of Nonaka myopathy (GNE-myopathy) in russian patients [PDF]

Neuromuscular Diseases, 2019
Clinical and genetic characteristics of 9patients with Nonaka myopathy (GNE-myopathy) from Russia are presented. As a result of exom sequencing, 11 different mutations were revealed in the GNE gene, 8 of which were described earlier, and 3 – Сys203Ser, Met263CysfsTer and deletion of the whole gene — were detected for the first time.
E. L. Dadali, I. V. Sharkova, G. E. Rudenskaya, S. S. Nikitin, A. F. Murtazina, O. P. Ryzhkova, A. L. Chukhrova   +6 more
openaire   +4 more sources

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

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   +2 more sources

Dominant stop‐loss HNRNPA1 variants in juvenile‐onset myopathy [PDF]

Muscle &Nerve, Volume 70, Issue 4, Page 843-850, October 2024.
Abstract Introduction/Aims Heterogeneous nuclear ribonucleoprotein A1 is involved in nucleic acid homeostatic functions. The encoding gene HNRNPA1 has been associated with several neuromuscular disorders including an amyotrophic lateral sclerosis‐like phenotype, distal hereditary motor neuropathy, multisystem proteinopathy, and various myopathies.
Johnnie Turner, Christine C. Bruels, Audrey L. Daugherty, Elicia A. Estrella, Seth Stafki, Safoora B. Syeda, Hannah R. Littel, Lynn Pais, Vijay S. Ganesh, Hart G. W. Lidov, Simon M. L. Paine, Paul Maddison, Rachel E. Harrison, Volker Straub, Partha S. Ghosh, Christina A. Pacak, Louis M. Kunkel, Isabelle Draper, Ana Topf, Peter B. Kang   +19 more
wiley   +2 more sources

Estimating the Prevalence of GNE Myopathy Using Population Genetic Databases [PDF]

Human Mutation, Volume 2024, Issue 1, 2024.
GNE myopathy (GNEM) is a rare autosomal recessive disorder characterized by progressive skeletal muscle wasting starting in early adulthood. The prevalence of GNEM is estimated to range between one and nine cases per million individuals, but the accuracy of these estimates is limited by underdiagnosis, misdiagnosis, and bias introduced by founder ...
Alexa Derksen, Rachel Thompson, Madeeha Shaikh, Sally Spendiff, Theodore J. Perkins, Hanns Lochmüller, Marta Olszewska   +6 more
wiley   +2 more sources

Atrial Myopathy Underlying Atrial Fibrillation [PDF]

, 2020
While AF most often occurs in the setting of atrial disease, current assessment and treatment of patients with AF does not focus on the extent of the atrial myopathy that serves as the substrate for this arrhythmia.
Goldberger, Jeffrey J, Jeffrey J Goldberger, Rivner, Harold, Mitrani, Raul D, Raul D Mitrani, Harold Rivner   +5 more
core   +1 more source

GNE myopathy: from clinics and genetics to pathology and research strategies

Orphanet Journal of Rare Diseases, 2018
GNE myopathy is an ultra-rare autosomal recessive disease, which starts as a distal muscle weakness and ultimately leads to a wheelchair bound state.
Oksana Pogoryelova, José Andrés González Coraspe, Nikoletta Nikolenko, Hanns Lochmüller, Andreas Roos   +4 more
doaj   +1 more source

Mitochondrial DNA deletion and duplication in Kearns–Sayre Syndrome (KSS) with initial presentation as Pearson Marrow‐Pancreas Syndrome (PMPS): Two case reports in Barranquilla, Colombia

Molecular Genetics &Genomic Medicine, Volume 8, Issue 11, November 2020., 2020
We present the first molecularly confirmed case reports of Colombian patients, diagnosed initially with Pearson Marrow‐Pancreas Syndrome, who later evolved to Kearns‐Sayre Syndrome. The first case report is a female patient with a single‐large scale mitochondrial DNA deletion, while the second case report is a female patient with a mitochondrial DNA ...
Vanessa Sabella‐Jiménez, Carlos Otero‐Herrera, Carlos Silvera‐Redondo, Pilar Garavito‐Galofre   +3 more
wiley   +1 more source

Lower Limb Radiology of Distal Myopathy due to the S60F Myotilin Mutation [PDF]

, 2009
Distal myopathies are a clinically and genetically heterogenous group of disorders in which the distal limb musculature is selectively or disproportionately affected.
Birchall, Daniel, Goldfarb, Lev, Lochmueller, Hanns, Walter, Maggie C., Chinnery, Patrick F., Reilich, Peter, McNeill, Alisdair, Schramm, Nicolai, Straub, Volker   +8 more
core   +1 more source

Phenotype standardization for statin-induced myotoxicity. [PDF]

, 2014
Statins are widely used lipid-lowering drugs that are effective in reducing cardiovascular disease risk. Although they are generally well tolerated, they can cause muscle toxicity, which can lead to severe rhabdomyolysis.
Fahy, J., Neely, D, Fahy, J, Wadelius, M, Palmer, CN, Carr, D. F., Maitland-van Der Zee, AH, Laaksonen, R, Maitland-van Der Zee, A. H., Wadelius, M., Yue, QY, Chinoy, H.; id_orcid, Psaty, BM, Bloch, K. M., Cooper, R. G., Neely, D., Psaty, B. M., Chinoy, H., Pirmohamed, M., Chinoy, H, Palmer, C. N. A., Voora, D, Palmer, C. N. A.; id_orcid, Voora, D., Armitage, J., Wadelius, Mia,, Yue, Q. Y., Alfirevic, A., Alfirevic, A, Armitage, J, Palmer, C. N A, Pirmohamed, M, Palmer, PN, Hanson, A., Bloch, KM, Laaksonen, R., Cooper, RG, Yue, Q-Y, Wadelius, Mia, Carr, DF, Hanson, A   +40 more
core   +1 more source