Results 131 to 140 of about 561,973 (252)

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

Subcellular Localization of Matrin 3 Containing Mutations Associated with ALS and Distal Myopathy

PLoS ONE, 2015
Background Mutations in Matrin 3 [MATR3], an RNA- and DNA-binding protein normally localized to the nucleus, have been linked to amyotrophic lateral sclerosis (ALS) and distal myopathies.
M. C. Gallego-Iradi, Alexis M. Clare, Hilda H. Brown, C. Janus, Jada Lewis, D. Borchelt   +5 more
semanticscholar   +1 more source

A novel FLNC frameshift and an OBSCN variant in a family with distal muscular dystrophy.

PLoS ONE, 2017
A novel FLNC c.5161delG (p.Gly1722ValfsTer61) mutation was identified in two members of a French family affected by distal myopathy and in one healthy relative. This FLNC c.5161delG mutation is one nucleotide away from a previously reported FLNC mutation
Daniela Rossi, Johanna Palmio, Anni Evilä, Lucia Galli, Virginia Barone, Tracy A Caldwell, Rachel A Policke, Esraa Aldkheil, Christopher E Berndsen, Nathan T Wright, Edoardo Malfatti, Guy Brochier, Enrico Pierantozzi, Albena Jordanova, Velina Guergueltcheva, Norma Beatriz Romero, Peter Hackman, Bruno Eymard, Bjarne Udd, Vincenzo Sorrentino   +19 more
doaj   +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

A rare case of distal myopathy

Indian Journal of Pathology and Microbiology, 2022
Rahul Jain, Kuljeet Singh Anand, Abhishek Juneja   +2 more
doaj   +1 more source

DES c.1360C>T: A Rare Desmin Variant Causing Early Distal Myopathy and Cardiomyopathy. [PDF]

Cureus, 2023
Dias R, Aguiar TC.
europepmc   +1 more source

Generation of iPSC lines from three Laing distal myopathy patients with a recurrent MYH7 p.Lys1617del variant

Stem Cell Research
Variants in MYH7 cause cardiomyopathies as well as myosin storage myopathy and Laing early-onset distal myopathy (MPD1). MPD1 is characterized by muscle weakness and atrophy usually beginning in the lower legs.
Joshua S. Clayton, Christina Vo, Jordan Crane, Carolin K. Scriba, Safaa Saker, Thierry Larmonier, Edoardo Malfatti, Norma B. Romero, Gianina Ravenscroft, Nigel G. Laing, Rhonda L. Taylor   +10 more
doaj   +1 more source

Expanding the Phenotypic Spectrum of Vocal Cord and Pharyngeal Weakness With Distal Myopathy due to the p.S85C MATR3 Mutation. [PDF]

Neurol Genet, 2022
Manini A, Velardo D, Ciscato P, Cinnante C, Moggio M, Comi G, Corti S, Ronchi D.   +7 more
europepmc   +1 more source

Case Report: A Novel Splice-Site Mutation in DNAJB6 Associated With Juvenile-Onset Proximal-Distal Myopathy in a Chinese Patient. [PDF]

Front Genet, 2022
Ji G, Wang N, Han X, Wang Y, Zhang J, Wu Y, Wu H, Ma S, Song X.   +8 more
europepmc   +1 more source

Long-term neuromuscular sequelae of critical illness [PDF]

, 2018
In this observational study, we analyzed the long-term neuromuscular deficits of survivors of critical illness. Intensive care unit-acquired muscular weakness (ICU-AW) is a very common complication of critical illness.
Heneka, Michael, Kaiser, Markus, Okulla, Torsten, Seifert, Burkhardt, Semmler, Alexander   +4 more
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