NEM6, KBTBD13-Related Congenital Myopathy: Myopathological Analysis in 18 Dutch Patients Reveals Ring Rods Fibers, Cores, Nuclear Clumps, and Granulo-Filamentous Protein Material
| العنوان: | NEM6, KBTBD13-Related Congenital Myopathy: Myopathological Analysis in 18 Dutch Patients Reveals Ring Rods Fibers, Cores, Nuclear Clumps, and Granulo-Filamentous Protein Material |
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| المؤلفون: | Nicol C. Voermans, Claire Boulogne, Benno Küsters, Clémence Labasse, Baziel G.M. van Engelen, Coen A.C. Ottenheijm, Josine M. de Winter, Guy Brochier, Karlijn Bouman, Lilian Eshuis, Esmee S.B. Van Kleef, Norma B. Romero, A. Madelaine, Cynthia Gillet, Edoardo Malfatti |
| المساهمون: | Physiology, ACS - Pulmonary hypertension & thrombosis |
| المصدر: | Journal of Neuropathology and Experimental Neurology, 80, 4, pp. 366-376 Journal of Neuropathology and Experimental Neurology, 80(4), 366-376. Lippincott Williams and Wilkins Journal of Neuropathology and Experimental Neurology, 80, 366-376 Bouman, K, Küsters, B, de Winter, J M, Gillet, C, van Kleef, E S B, Eshuis, L, Brochier, G, Madelaine, A, Labasse, C, Boulogne, C, van Engelen, B G M, Ottenheijm, C A C, Romero, N B, Voermans, N C & Malfatti, E 2021, ' NEM6, KBTBD13-Related Congenital Myopathy: Myopathological Analysis in 18 Dutch Patients Reveals Ring Rods Fibers, Cores, Nuclear Clumps, and Granulo-Filamentous Protein Material ', Journal of Neuropathology and Experimental Neurology, vol. 80, no. 4, pp. 366-376 . https://doi.org/10.1093/jnen/nlab012 |
| سنة النشر: | 2021 |
| مصطلحات موضوعية: | Adult, Male, Pathology, medicine.medical_specialty, genetic structures, Muscle Fibers, Skeletal, Muscle Proteins, Myopathies, Nemaline, Sarcomere, Pathology and Forensic Medicine, law.invention, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Nemaline myopathy, law, medicine, Myotilin, Humans, Myopathy, Actin, 030304 developmental biology, Aged, Netherlands, 0303 health sciences, biology, Chemistry, General Medicine, Middle Aged, medicine.disease, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Congenital myopathy, Neurology, biology.protein, Titin, Female, Neurology (clinical), sense organs, medicine.symptom, Electron microscope, 030217 neurology & neurosurgery |
| الوصف: | Contains fulltext : 232919.pdf (Publisher’s version ) (Closed access) Nemaline myopathy type 6 (NEM6), KBTBD13-related congenital myopathy is caused by mutated KBTBD13 protein that interacts improperly with thin filaments/actin, provoking impaired muscle-relaxation kinetics. We describe muscle morphology in 18 Dutch NEM6 patients and correlate it with clinical phenotype and pathophysiological mechanisms. Rods were found in in 85% of biopsies by light microscopy, and 89% by electron microscopy. A peculiar ring disposition of rods resulting in ring-rods fiber was observed. Cores were found in 79% of NEM6 biopsies by light microscopy, and 83% by electron microscopy. Electron microscopy also disclosed granulofilamentous protein material in 9 biopsies. Fiber type 1 predominance and prominent nuclear internalization were found. Rods were immunoreactive for α-actinin and myotilin. Areas surrounding the rods showed titin overexpression suggesting derangement of the surrounding sarcomeres. NEM6 myopathology hallmarks are prominent cores, rods including ring-rods fibers, nuclear clumps, and granulofilamentous protein material. This material might represent the histopathologic epiphenomenon of altered interaction between mutated KBTBD13 protein and thin filaments. We claim to classify KBTBD13-related congenital myopathy as rod-core myopathy. |
| وصف الملف: | application/pdf |
| تدمد: | 0022-3069 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::01d438341d71a4ea654671edd0c639f8 https://repository.ubn.ru.nl/handle/2066/232919 |
| حقوق: | OPEN |
| رقم الأكسشن: | edsair.doi.dedup.....01d438341d71a4ea654671edd0c639f8 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 00223069 |
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