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Items: 1 to 20 of 47

1.
Adult-onset carnitine palmitoyl transferase II (CPT II) deficiency presenting with rhabdomyolysis and acute kidney injury
Halil Tuna Akar, Yılmaz Yıldız, Rüya Mutluay, Emel Tekin, Ayşegül Tokatlı
CEN Case Rep. 2024 Apr; 13(2): 81–85. Published online 2023 Jun 21. doi: 10.1007/s13730-023-00804-8
PMCID:
PMC10982194
ArticlePDF–729K
2.
Variants in DTNA cause a mild, dominantly inherited muscular dystrophy
Andres Nascimento, Christine C. Bruels, Sandra Donkervoort, A. Reghan Foley, Anna Codina, Jose C Milisenda, Elicia A. Estrella, Chengcheng Li, Jordi Pijuan, Isabelle Draper, Ying Hu, Seth A. Stafki, Lynn S. Pais, Vijay S. Ganesh, Anne O’Donnell-Luria, Safoora B. Syeda, Laura Carrera-García, Jessica Expósito-Escudero, Delia Yubero, Loreto Martorell, Iago Pinal-Fernandez, Hart G.W. Lidov, Andrew L. Mammen, Josep M Grau-Junyent, Carlos Ortez, Francesc Palau, Partha S Ghosh, Basil T. Darras, Cristina Jou, Louis M. Kunkel, Janet Hoenicka, Carsten G. Bönnemann, Peter B. Kang, Daniel Natera-de Benito
Acta Neuropathol. Author manuscript; available in PMC 2024 Apr 1.
Published in final edited form as: Acta Neuropathol. 2023 Apr; 145(4): 479–496. Published online 2023 Feb 17. doi: 10.1007/s00401-023-02551-7
PMCID:
PMC10923638
ArticlePDF–2.4M
3.
Abnormal myosin post‐translational modifications and ATP turnover time associated with human congenital myopathy‐related RYR1 mutations
Alexander Sonne, Anna Katarina Antonovic, Elise Melhedegaard, Fariha Akter, Jesper L. Andersen, Heinz Jungbluth, Nanna Witting, John Vissing, Edmar Zanoteli, Arianna Fornili, Julien Ochala
Acta Physiol (Oxf) 2023 Oct; 239(2): e14035. Published online 2023 Aug 21. doi: 10.1111/apha.14035
PMCID:
PMC10909445
ArticlePDF–11M
4.
Oral Dantrolene Reduces Myalgia and Hyperckemia in a Child with RYR1-Related Exertional Myalgia/Rhabdomyolysis
Elis Vanessa de Lima Silva, Karina Carvalho Donis, Fabiana Rita Camara Machado, Leonardo Simão Medeiros, Carlos Alberto de Moura Aschoff, Carolina Fischinger Moura de Souza, Fabiano de Oliveira Poswar, Jonas Alex Morales Saute
J Neuromuscul Dis. 2023; 10(6): 1145–1149. Prepublished online 2023 Sep 28. Published online 2023 Nov 7. doi: 10.3233/JND-230007
PMCID:
PMC10657692
ArticlePDF–180K
5.
Intrinsic and extrinsic regulation of rhabdomyolysis susceptibility by Tango2
Euri S. Kim, Jennifer G. Casey, Brian S. Tao, Arian Mansur, Nishanthi Mathiyalagan, E. Diane Wallace, Brandie M. Ehrmann, Vandana A. Gupta
Dis Model Mech. 2023 Sep 1; 16(9): dmm050092. Published online 2023 Sep 5. doi: 10.1242/dmm.050092
PMCID:
PMC10499024
Article
6.
A Mild Clinical Phenotype with Myopathic and Hemolytic Forms of Phosphoglycerate Kinase Deficiency (PGK Osaka): A Case Report and Literature Review
Kousuke Baba, Tokiko Fukuda, Mitsuru Furuta, Satoru Tada, Atsuko Imai, Yoshihiro Asano, Hideo Sugie, Masanori P. Takahashi, Hideki Mochizuki
Intern Med. 2022 Dec 1; 61(23): 3589–3594. Published online 2022 May 7. doi: 10.2169/internalmedicine.9221-21
PMCID:
PMC9790788
ArticlePDF–399K
7.
Enriched Pathways of Calcium Regulation, Cellular/Oxidative Stress, Inflammation, and Cell Proliferation Characterize Gluteal Muscle of Standardbred Horses between Episodes of Recurrent Exertional Rhabdomyolysis
Stephanie J. Valberg, Deborah Velez-Irizarry, Zoë J. Williams, Marisa L. Henry, Hailey Iglewski, Keely Herrick, Clara Fenger
Genes (Basel) 2022 Oct; 13(10): 1853. Published online 2022 Oct 14. doi: 10.3390/genes13101853
PMCID:
PMC9601720
ArticlePDF–3.1M
8.
Clinical, Biochemical, and Molecular Characterization of Two Families with Novel Mutations in the LDHA Gene (GSD XI)
Pablo Serrano-Lorenzo, María Rabasa, Jesús Esteban, Irene Hidalgo Mayoral, Cristina Domínguez-González, Agustín Blanco-Echevarría, Rocío Garrido-Moraga, Alejandro Lucia, Alberto Blázquez, Juan C. Rubio, Carmen Palma-Milla, Joaquín Arenas, Miguel A. Martín
Genes (Basel) 2022 Oct; 13(10): 1835. Published online 2022 Oct 11. doi: 10.3390/genes13101835
PMCID:
PMC9601687
ArticlePDF–1.6M
9.
Thermo‐sensitive mitochondrial trifunctional protein deficiency presenting with episodic myopathy
Marit Schwantje, Merel S. Ebberink, Mirjam Doolaard, Jos P. N. Ruiter, Sabine A. Fuchs, Niklas Darin, Carola Hedberg‐Oldfors, Luc Régal, Laura Donker Kaat, Hidde H. Huidekoper, Simon Olpin, Duncan Cole, Stuart J. Moat, Gepke Visser, Sacha Ferdinandusse
J Inherit Metab Dis. 2022 Jul; 45(4): 819–831. Published online 2022 May 5. doi: 10.1002/jimd.12503
PMCID:
PMC9542805
ArticlePDF–1.9M
10.
DBS emergency surgery for treatment of dystonic storm associated with rhabdomyolysis and acute colitis in DYT-GNAO1
Hind Chaib, Jan-Christoph Schoene-Bake, Assel Saryyeva, Thomas Jack, Hans Hartmann, Joachim K. Krauss
Childs Nerv Syst. 2022; 38(9): 1821–1824. Published online 2022 Jun 20. doi: 10.1007/s00381-022-05582-9
PMCID:
PMC9463340
ArticlePDF–530K
11.
Recurrent, non-traumatic, non-exertional rhabdomyolysis after immunologic stimuli in a healthy adolescent female: a case report
Jason Katz, Anatalia Labilloy, Andrew Lee
BMC Pediatr. 2022; 22: 515. Published online 2022 Aug 30. doi: 10.1186/s12887-022-03561-2
PMCID:
PMC9426381
ArticlePDF–790K
12.
Successful orthotopic heart transplantation in CPTII deficiency
Georgianne L. Arnold, Jessie Yester, Elizabeth McCracken, Brian D. Feingold, Jerry Vockley
Mol Genet Metab. Author manuscript; available in PMC 2022 Mar 7.
Published in final edited form as: Mol Genet Metab. 2021 Jun; 133(2): 182–184. Published online 2021 Apr 28. doi: 10.1016/j.ymgme.2021.04.005
PMCID:
PMC8899800
ArticlePDF–566K
13.
Mitochondrial dysfunction associated with TANGO2 deficiency
Paige Heiman, Al-Walid Mohsen, Anuradha Karunanidhi, Claudette St Croix, Simon Watkins, Erik Koppes, Richard Haas, Jerry Vockley, Lina Ghaloul-Gonzalez
Sci Rep. 2022; 12: 3045. Published online 2022 Feb 23. doi: 10.1038/s41598-022-07076-9
PMCID:
PMC8866466
ArticlePDF–5.0M
14.
MLIP causes recessive myopathy with rhabdomyolysis, myalgia and baseline elevated  serum creatine kinase
Osorio Lopes Abath Neto, Livija Medne, Sandra Donkervoort, Maria Elena Rodríguez-García, Véronique Bolduc, Ying Hu, Eleonora Guadagnin, A Reghan Foley, John F Brandsema, Allan M Glanzman, Gihan I Tennekoon, Mariarita Santi, Justin H Berger, Lynn A Megeney, Hirofumi Komaki, Michio Inoue, Francisco Javier Cotrina-Vinagre, Aurelio Hernández-Lain, Elena Martin-Hernández, Linford Williams, Sabine Borell, David Schorling, Kimberly Lin, Konstantinos Kolokotronis, Uta Lichter-Konecki, Janbernd Kirschner, Ichizo Nishino, Brenda Banwell, Francisco Martínez-Azorín, Patrick G Burgon, Carsten G Bönnemann
Brain. 2021 Sep; 144(9): 2722–2731. Published online 2021 Sep 28. doi: 10.1093/brain/awab275
PMCID:
PMC8536936
ArticlePDF–792K
15.
The neuromuscular and multisystem features of RYR1-related malignant hyperthermia and rhabdomyolysis: A study protocol
Luuk R. van den Bersselaar, Nick Kruijt, Gert-Jan Scheffer, Lucas van Eijk, Ignacio Malagon, Stan Buckens, José AE Custers, Leonie Helder, Anna Greco, Leo AB Joosten, Baziel GM van Engelen, Nens van Alfen, Sheila Riazi, Susan Treves, Heinz Jungbluth, Marc MJ Snoeck, Nicol C. Voermans
Medicine (Baltimore) 2021 Aug 20; 100(33): e26999. Published online 2021 Aug 20. doi: 10.1097/MD.0000000000026999
PMCID:
PMC8376301
ArticlePDF–262K
16.
A new dysferlin gene mutation in a Portuguese family with Miyoshi myopathy
Sandra Ganchinho Lucas, Inês Vieira Santos, Filipe Jorge Pencas Alfaiate, Ireneia Lino
BMJ Case Rep. 2021; 14(7): e242341. Published online 2021 Jul 19. doi: 10.1136/bcr-2021-242341
PMCID:
PMC8291323
ArticlePDF–215K
17.
Myocardial Lipin 1 knockout in mice approximates cardiac effects of human LPIN1 mutations
Kari T. Chambers, Michael A. Cooper, Alison R. Swearingen, Rita T. Brookheart, George G. Schweitzer, Carla J. Weinheimer, Attila Kovacs, Timothy R. Koves, Deborah M. Muoio, Kyle S. McCommis, Brian N. Finck
JCI Insight. 2021 May 10; 6(9): e134340. Published online 2021 May 10. doi: 10.1172/jci.insight.134340
PMCID:
PMC8262319
ArticlePDF–2.8M
18.
Pathways of calcium regulation, electron transport, and mitochondrial protein translation are molecular signatures of susceptibility to recurrent exertional rhabdomyolysis in Thoroughbred racehorses
Kennedy Aldrich, Deborah Velez-Irizarry, Clara Fenger, Melissa Schott, Stephanie J. Valberg
PLoS One. 2021; 16(2): e0244556. Published online 2021 Feb 10. doi: 10.1371/journal.pone.0244556
PMCID:
PMC7875397
ArticlePDF–2.9M
19.
Acute recurrent rhabdomyolysis in a Chinese boy associated with a novel compound heterozygous LPIN1 variant: a case report
Ke Tong, Geng-Sheng Yu
BMC Neurol. 2021; 21: 42. Published online 2021 Jan 29. doi: 10.1186/s12883-021-02050-w
PMCID:
PMC7844980
ArticlePDF–1.5M
20.
The etiology of rhabdomyolysis: an interaction between genetic susceptibility and external triggers
N. Kruijt, L. R. van den Bersselaar, E. J. Kamsteeg, W. Verbeeck, M. M. J. Snoeck, D. S. Everaerd, W. F. Abdo, D. R. M. Jansen, C. E. Erasmus, H. Jungbluth, N. C. Voermans
Eur J Neurol. 2021 Feb; 28(2): 647–659. Published online 2020 Oct 25. doi: 10.1111/ene.14553
PMCID:
PMC7821272
ArticlePDF–1009K

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