Distal Myopathies and Beyond: An Updated Overview of the Welander Distal Myopathy [PDF]
CellsMyopathies are a heterogeneous group of disorders that primarily affect skeletal muscles and are classified as rare diseases owing to their low incidence.
Ana García-Rubio +2 more
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Treatment of severe equinovarus deformity associated with distal myopathy
Foot & Ankle Surgery: Techniques, Reports & Cases, 2023 Inclusion body myopathy (IBM) is a form of distal myopathy which is characterized by progressive muscle weakness and wasting.1 A healthy 23-year-old male with unremarkable past medical history presented with left ankle pain and contracture of ...
Caleb Thomas, DPM +2 more
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GYG1: A distal myopathy with polyglucosan bodies [PDF]
JIMD Reports, 2020 Mutations in glycogenin‐1 (GYG1) cause an adult‐onset polyglucosan body myopathy. We report here a patient presenting with late‐onset distal myopathy. We wish to highlight this rare clinical phenotype of GYG1‐related myopathy and the histological clues ...
Stefan Nicolau +4 more
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Aquaporin-4 expression in distal myopathy with rimmed vacuoles [PDF]
BMC Neurology, 2012 Background Distal myopathy with rimmed vacuoles/hereditary inclusion body myopathy is clinically characterized by the early involvement of distal leg muscles. The striking pathological features of the myopathy are muscle fibers with rimmed vacuoles.
Hoshi Akihiko +5 more
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Clinical features and genotypes of Laing distal myopathy in a group of Chinese patients, with in-frame deletions of MYH7 as common mutations [PDF]
Orphanet Journal of Rare Diseases, 2020 Background Laing distal myopathy is a rare autosomal dominant inherited distal myopathy caused by mutations of the MYH7 gene affecting mainly the rod region.
Meng Yu +6 more
doaj +2 more sources
First Family of MATR3-Related Distal Myopathy From Italy: The Role of Muscle Biopsy in the Diagnosis and Characterization of a Still Poorly Understood Disease [PDF]
Frontiers in Neurology, 2021 Mutations in the MATR3 gene are associated to distal myopathy with vocal cord and pharyngeal weakness (VCPDM), as well as familiar and sporadic motor neuron disease.
Michele Cavalli +5 more
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A novel variant in the tropomyosin 3 gene presenting as an adult-onset distal myopathy - a case report [PDF]
BMC Neurology, 2023 Background We report a patient with a novel c.737 C > T variant (p.Ser246Leu) of the TPM3 gene presenting with adult-onset distal myopathy. Case presentation A 35-year-old Chinese male patient presented with a history of progressive finger weakness ...
Zhiyong Chen +12 more
doaj +2 more sources
Distal Vacuolar Myopathy in Cystinosis
Pediatric Neurology Briefs, 1994 Distal vacuolar myopathy in 13 post-renal-transplant cystinosis patients, ages 17 to 27 years, and studied at multiple centers, is reported from the National Institute of Child Health and Human Development, Bethesda, MD.
J Gordon Millichap
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Asymmetric scapuloperoneal phenotype of MATR3-related distal myopathy: case series [PDF]
Frontiers in GeneticsRecent research has sparked a discussion on the spectrum of diseases linked to the MATR3 gene associated with amyotrophic lateral sclerosis and distal myopathy with vocal cord and pharyngeal weakness (VCPDM).
Aysylu Murtazina +13 more
doaj +2 more sources
Journal of Neurology, 1981 The sporadic distal myopathies are uncommon primary muscle diseases, the pathogenesis of which is still unclear. The inclusion body myositides are inflammatory myopathies, the distal form of which presents some features resembling those of sporadic distal myopathy. A case is reported of a patient showing features of both the first and the second forms.
Vaccario, Maria Luigia +3 more
openaire +4 more sources