DES c.1360C>T: A Rare Desmin Variant Causing Early Distal Myopathy and Cardiomyopathy. [PDF]
Cureus, 2023 Dias R, Aguiar TC.
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Dominant Distal Myopathy 3 (MPD3) Caused by a Deletion in the HNRNPA1 Gene. [PDF]
Neurol Genet, 2021 Hackman P +15 more
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The frequent variant A57F in the GNE gene in patients from Russia has Finno-Ugric Mari origin
Frontiers in GeneticsIntroductionGNE-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 +10 more
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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 +7 more
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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 +8 more
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A rare case of distal myopathy
Indian Journal of Pathology and Microbiology, 2022 Rahul Jain +2 more
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Stem Cell ResearchVariants 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 +10 more
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A case report of deglutition triggered atrial fibrillation in a patient with Laing distal myopathy. [PDF]
Eur Heart J Case Rep, 2021 Alvarez CK, Swales H, Kluger J.
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A novel frameshift ACTN2 variant causes a rare adult-onset distal myopathy with multi-minicores. [PDF]
CNS Neurosci Ther, 2021 Chen L, Chen DF, Dong HL, Liu GL, Wu ZY.
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