Results 101 to 110 of about 333,621 (210)

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  

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

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

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

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

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

Dominant Distal Myopathy 3 (MPD3) Caused by a Deletion in the HNRNPA1 Gene. [PDF]

Neurol Genet, 2021
Hackman P, Rusanen SM, Johari M, Vihola A, Jonson PH, Sarparanta J, Donner K, Lahermo P, Koivunen S, Luque H, Soininen M, Mahjneh I, Auranen M, Arumilli M, Savarese M, Udd B.   +15 more
europepmc   +1 more source

Autosomal dominant distal myopathy: Linkage to chromosome 14

, 1995
We have studied a family segregating a form of autosomal dominant distal myopathy (MIM 160500) and containing nine living affected individuals. The myopathy in this family is closest in clinical phenotype to that first described by Gowers in 1902.
Laing, N.G., Kozman, H., Mastaglia, F.L., Meredith, C., Kakulas, B.A., Robbins, P., Honeyman, K., Wilton, S.D., Laing, B.A., Dorosz, S.   +9 more
core  

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