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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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
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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
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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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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
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RYR1 causing distal myopathy. [PDF]
Mol Genet Genomic Med, 2017 AbstractBackgroundCongenital myopathies due to ryanodine receptor (RYR1) mutations are increasingly identified and correlate with a wide range of phenotypes, most commonly that of malignant hyperthermia susceptibility and central cores on muscle biopsy with rare reports of distal muscle weakness, but in the setting of early onset global weakness ...
Laughlin RS, Niu Z, Wieben E, Milone M.
europepmc +4 more sources
Clinical, pathological and genetic characteristics of GNE myopathy: a single-center observational study [PDF]
BMC Musculoskeletal DisordersIntroduction GNE myopathy is a rare autosomal recessive hereditary myopathy resulting in impaired sialic acid biosynthesis. The features of this condition include distal muscle weakness with relatively preserved quadriceps femoris strength and the ...
Jinliang Deng +8 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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Neurologic Clinics, 2014 In this article, distal myopathy syndromes are discussed. A discussion of the more traditional distal myopathies is followed by discussion of the myofibrillar myopathies. Other clinically and genetically distinctive distal myopathy syndromes usually based on single or smaller family cohorts are reviewed. Other neuromuscular disorders that are important
Mazen M, Dimachkie, Richard J, Barohn
openaire +2 more sources