Results 11 to 20 of about 12,116 (229)

Late-onset myopathy of the posterior calf muscles mimicking Miyoshi myopathy unrelated to dysferlin mutation: a case report

Journal of Medical Case Reports, 2012
Introduction Miyoshi myopathy, a type of distal myopathy with predominant involvement of the posterior calf muscles, has been assigned to mutations in the dysferlin gene.
Neusch Clemens, Kuhlmann Tanja, Kress Wolfram, Schneider-Gold Christiane   +3 more
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Inclusion body myositis: therapeutic approaches. [PDF]

, 2012
The idiopathic inflammatory myopathies are a heterogeneous group of diseases that include dermatomyositis (DM), polymyositis (PM), inclusion body myositis (IBM) and other less common myopathies.
Aggarwal, Rohit, Oddis, Chester V
core   +1 more source

Congenital myopathies: The current status

Indian Journal of Pathology and Microbiology, 2022
Within the history of neuromuscular diseases (NMD), congenital myopathies (CM) represent a relatively new category introduced in the mid-nineteen hundreds upon advent and subsequent application of enzyme histochemistry and electron microscopy by ...
Hans H Goebel, Carsten Dittmayer, Werner Stenzel   +2 more
doaj   +1 more source

Late-onset thymidine kinase 2 deficiency: a review of 18 cases [PDF]

, 2019
BACKGROUND: TK2 gene encodes for mitochondrial thymidine kinase, which phosphorylates the pyrimidine nucleosides thymidine and deoxycytidine. Recessive mutations in the TK2 gene are responsible for the 'myopathic form' of the mitochondrial depletion ...
Caballero Eraso, Candelaria, Domínguez González, Cristina, Fernández Torrón, Roberto, Fuiza Luces, Carmen, García García, Jorge M., Hernández Laín, Aurelio, Hernández Voth, Ana R., Paradas, Carmen, Rivas, Eloy, Sayas Catalán, Javier   +9 more
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Novel Desmin Mutation Causing Myofibrillar Myopathy in a Hmong Family

Frontiers in Neurology, 2020
Myofibrillar myopathies (MFM) are a clinically and genetically heterogenous group of inherited myopathies characterized by aggregation of Z-disc proteins. Mutations in desmin account for ~7% of MFM.
Stefan Nicolau, Benjamin M. Howe, Elie Naddaf   +2 more
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A recurrent single-amino acid deletion (p.Glu500del) in the head domain of ß-cardiac myosin in two unrelated boys presenting with polyhydramnios, congenital axial stiffness and skeletal myopathy

Orphanet Journal of Rare Diseases, 2022
Background Alterations in the MYH7 gene can cause cardiac and skeletal myopathies. MYH7-related skeletal myopathies are extremely rare, and the vast majority of causal variants in the MYH7 gene are predicted to alter the rod domain of the of ß-cardiac ...
Ingrid Bader, M. Freilinger, F. Landauer, S. Waldmüller, W. Mueller-Felber, C. Rauscher, W. Sperl, R. E. Bittner, W. M. Schmidt, J. A. Mayr   +9 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, Assal Nour Ziai, DPM, FACFAS, Ellianne M. Nasser, DPM, CWS, FACFAS   +2 more
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Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies [PDF]

, 2014
Mutations affecting skeletal muscle isoforms of the tropomyosin genes may cause nemaline myopathy, cap myopathy, core-rod myopathy, congenital fiber-type disproportion, distal arthrogryposes, and Escobar syndrome.
Barnerias, Christine, Beggs, Alan H., Bertini, Enrico, Ceyhan-Birsoy, Özge, Cintas, Pascal, Clarke, Nigel F., de Visser, Marianne, Eymard, Bruno, Frydman, Moshe, Gerard, Marion, Gilbert-Dussardier, Brigitte, Grönholm, Mikaela, Hogue, Jacob S., Kang, Peter B., Klinge, Lars, Kolski, Hanna, Laing, Nigel G., Lehtokari, Vilma-Lotta, Lochmüller, Hans, Longman, Cheryl, Magy, Laurent, Manel, Véronique, Marston, Steven, Marttila, Minttu, Mayer, Michèle, Mercuri, Eugenio, Monnier, Nicole, North, Kathryn N., Nowak, Kristen, Nyman, Tuula A., Pelin, Katarina, Peudenier-Robert, Sylviane, Pihko, Helena, Probst, Frank J., Reisin, Ricardo, Stewart, Willie, Taratuto, Ana Lia, Wallgren-Pettersson, Carina, Wilichowski, Ekkehard, Winder, Tom L., Winer, John   +40 more
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Dominant BIN1-related centronuclear myopathy (CNM) revealed by lower limb myalgia and moderate CK elevation [PDF]

, 2015
We report a BIN1-related CNM family with unusual clinical phenotype. The proband, a 56-year-old man suffered of lower limbs myalgia since the age of 52.
Antonini, Giovanni, Bertini, E., Böhm, J., Fattori, F., Garibaldi, Matteo, Laporte, J., Laschena, F., Ottaviani, P., Romero, N.   +8 more
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Intrafamilial phenotypic variability of DNAJB6 mutation associated autosomal dominantly inherited myopathy: a family report and literature review

Chinese Journal of Contemporary Neurology and Neurosurgery, 2021
Objective To summarize the clinical phenotypes and genetic mutations of DNAJB6 related myopathies. Methods We retrospectively reviewed the clinical information, laboratory tests, muscle MRIs, electromyography results, muscle pathology examinations and ...
LI Fan, YU Meng, XIE Zhi⁃ying, WANG Qing⁃qing, LIU Jing, ZHANG Wei, LÜ He, YUAN Yun, WANG Zhao⁃xia   +8 more
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