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Select item 53465671.

Mitochondrial Bioenergetics in the Metabolic Myopathy Accompanying Peripheral Artery Disease

Victoria G. Rontoyanni, Omar Nunez Lopez, Grant T. Fankhauser, Zulfiqar F. Cheema, Blake B. Rasmussen, Craig Porter

Front Physiol. 2017; 8: 141. Published online 2017 Mar 13. doi: 10.3389/fphys.2017.00141

PMCID:: PMC5346567

Abstract Article PDF–1.3M

Select item 33490722.

Ablation of Steroid Receptor Coactivator-3 resembles the human CACT metabolic myopathy

Brian York, Erin L. Reineke, Jørn V. Sagen, Bryan C. Nikolai, Suoling Zhou, Jean-Francois Louet, Atul R. Chopra, Xian Chen, Graham Reed, Jeffrey Noebels, Adekunle M. Adesina, Hui Yu, Lee-Jun C. Wong, Anna Tsimelzon, Susan Hilsenbeck, Robert D. Stevens, Brett R. Wenner, Olga Ilkayeva, Jianming Xu, Christopher B. Newgard, Bert W. O’Malley

Cell Metab. Author manuscript; available in PMC 2013 May 2.

Published in final edited form as: Cell Metab. 2012 May 2; 15(5): 752–763. doi: 10.1016/j.cmet.2012.03.020

PMCID:: PMC3349072

Abstract Article PDF–1.9M

Select item 31489963.

Metabolic myopathy presenting with polyarteritis nodosa: a case report

Sahana Vishwanath, Mishal Abdullah, Amro Elbalkhi, Julian L Ambrus, Jr

J Med Case Reports. 2011; 5: 262. Published online 2011 Jun 30. doi: 10.1186/1752-1947-5-262

PMCID:: PMC3148996

Abstract Article PDF–272K

Select item 38148174.

Adeno-Associated Virus–Mediated Gene Therapy for Metabolic Myopathy

Cathryn S. Mah, Meghan S. Soustek, A. Gary Todd, Angela McCall, Barbara K. Smith, Manuela Corti, Darin J. Falk, Barry J. Byrne

Hum Gene Ther. 2013 Nov; 24(11): 928–936. doi: 10.1089/hum.2013.2514

PMCID:: PMC3814817

Abstract Article PDF–186K

Select item 41330315.

Aborted Sudden Cardiac Death and a Mother with Suspected Metabolic Myopathy

Josef Finsterer, Claudia Stöllberger, Hans Keller

Clin Med Insights Cardiol. 2014; 8: 67–69. Published online 2014 Aug 11. doi: 10.4137/CMC.S16143

PMCID:: PMC4133031

Abstract Article PDF–338K

Select item 72036546.

Impaired lipolysis in propionic acidemia: A new metabolic myopathy?

Jesper H. Storgaard, Karen L. Madsen, Nicoline Løkken, John Vissing, Gerrit van Hall, Allan M. Lund, Mette C. Ørngreen

JIMD Rep. 2020 May; 53(1): 16–21. Published online 2020 Mar 31. doi: 10.1002/jmd2.12113

Correction in:: JIMD Rep. 2021 Nov; 62(1): 97.

PMCID:: PMC7203654

Abstract Article PDF–794K

Select item 71404157.

Mitochondrial Structure and Function in the Metabolic Myopathy Accompanying Patients with Critical Limb Ischemia

Thomas Groennebaek, Tine Borum Billeskov, Camilla Tvede Schytz, Nichlas Riise Jespersen, Hans Erik Bøtker, Rikke Kathrine Jentoft Olsen, Nikolaj Eldrup, Joachim Nielsen, Jean Farup, Frank Vincenzo de Paoli, Kristian Vissing

Cells. 2020 Mar; 9(3): 570. Published online 2020 Feb 28. doi: 10.3390/cells9030570

PMCID:: PMC7140415

Abstract Article PDF–5.4M

Select item 44355908.

Blockade of ActRIIB Signaling Triggers Muscle Fatigability and Metabolic Myopathy

Karima Relizani, Etienne Mouisel, Benoit Giannesini, Christophe Hourdé, Ketan Patel, Susanne Morales Gonzalez, Kristina Jülich, Alban Vignaud, France Piétri-Rouxel, Dominique Fortin, Luis Garcia, Stéphane Blot, Olli Ritvos, David Bendahan, Arnaud Ferry, Renée Ventura-Clapier, Markus Schuelke, Helge Amthor

Mol Ther. 2014 Aug; 22(8): 1423–1433. Prepublished online 2014 May 27. Published online 2014 Jul 1. doi: 10.1038/mt.2014.90

PMCID:: PMC4435590

Abstract Article PDF–668K

Select item 17573789.

R Lane, B Soteriou, H Zhang, L Archard

J Neurol Neurosurg Psychiatry. 2003 Oct; 74(10): 1382–1386. doi: 10.1136/jnnp.74.10.1382

PMCID:: PMC1757378

Summary PDF–486K

Select item 641696610.

Loss of RNA-Binding Protein Sfpq Causes Long-Gene Transcriptopathy in Skeletal Muscle and Severe Muscle Mass Reduction with Metabolic Myopathy

Motoyasu Hosokawa, Akihide Takeuchi, Jun Tanihata, Kei Iida, Shin'ichi Takeda, Masatoshi Hagiwara

iScience. 2019 Mar 29; 13: 229–242. Published online 2019 Feb 27. doi: 10.1016/j.isci.2019.02.023

PMCID:: PMC6416966

Abstract Article PDF–5.8M

Select item 492087911.

Pompe's Disease in Childhood: A Metabolic Myopathy

U Raju, SC Shaw, KS Rana, M Sharma, HR Ramamurthy

Med J Armed Forces India. 2010 Jan; 66(1): 32–36. Published online 2011 Jul 21. doi: 10.1016/S0377-1237(10)80089-9

PMCID:: PMC4920879

Abstract Article PDF–583K

Select item 1107317012.

Cellular prion protein dysfunction in a prototypical inherited metabolic myopathy

Fatima-Zohra Boufroura, Céline Tomkiewicz-Raulet, Virginie Poindessous, Johan Castille, Jean-Luc Vilotte, Jean Bastin, Sophie Mouillet-Richard, Fatima Djouadi

Cell Mol Life Sci. 2021 Mar; 78(5): 2157–2167. Published online 2020 Sep 1. doi: 10.1007/s00018-020-03624-6

PMCID:: PMC11073170

Abstract Article PDF–8.4M

Select item 594014713.

A Nonsense Variant in the ACADVL Gene in German Hunting Terriers with Exercise Induced Metabolic Myopathy

Vincent Lepori, Franziska Mühlhause, Adrian C. Sewell, Vidhya Jagannathan, Nils Janzen, Marco Rosati, Filipe Miguel Maximiano Alves de Sousa, Aurélie Tschopp, Gertraud Schüpbach, Kaspar Matiasek, Andrea Tipold, Tosso Leeb, Marion Kornberg

G3 (Bethesda) 2018 May; 8(5): 1545–1554. Published online 2018 Feb 28. doi: 10.1534/g3.118.200084

PMCID:: PMC5940147

Abstract Article PDF–1.6M

Select item 662021914.

Novel Asp511Thr mutation in McArdle disease with acute kidney injury caused by rhabdomyolysis

Ayaka Satoh, Shuma Hirashio, Takahiro Arima, Yumi Yamada, Taisuke Irifuku, Haruka Ishibashi, Atsuko Motoda, Yoshimasa Sueda, Takao Masaki

CEN Case Rep. 2019 Aug; 8(3): 194–199. Published online 2019 Mar 21. doi: 10.1007/s13730-019-00392-6

PMCID:: PMC6620219

Abstract Article PDF–781K

Select item 443783615.

Diagnostic Evaluation of Rhabdomyolysis

Jessica R. Nance, Andrew L. Mammen

Muscle Nerve. Author manuscript; available in PMC 2016 Jun 1.

Published in final edited form as: Muscle Nerve. 2015 Jun; 51(6): 793–810. Published online 2015 Mar 14. doi: 10.1002/mus.24606

PMCID:: PMC4437836

Abstract Article PDF–692K

Select item 699493816.

Absence of p.R50X Pygm read-through in McArdle disease cellular models

Guillermo Tarrasó, Alberto Real-Martinez, Marta Parés, Lídia Romero-Cortadellas, Laura Puigros, Laura Moya, Noemí de Luna, Astrid Brull, Miguel Angel Martín, Joaquin Arenas, Alejandro Lucia, Antoni L. Andreu, Jordi Barquinero, John Vissing, Thomas O. Krag, Tomàs Pinós

Dis Model Mech. 2020 Jan 1; 13(1): dmm043281. Published online 2020 Jan 13. doi: 10.1242/dmm.043281

PMCID:: PMC6994938

Abstract Article

Select item 615885617.

Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study

Guja Astrea, Alessandro Romano, Corrado Angelini, Carlo Giuseppe Antozzi, Rita Barresi, Roberta Battini, Carla Battisti, Enrico Bertini, Claudio Bruno, Denise Cassandrini, Marina Fanin, Fabiana Fattori, Chiara Fiorillo, Renzo Guerrini, Lorenzo Maggi, Eugenio Mercuri, Federica Morani, Marina Mora, Francesca Moro, Ilaria Pezzini, Esther Picillo, Michele Pinelli, Luisa Politano, Anna Rubegni, Walter Sanseverino, Marco Savarese, Pasquale Striano, Annalaura Torella, Carlo Pietro Trevisan, Rosanna Trovato, Irina Zaraieva, Francesco Muntoni, Vincenzo Nigro, Adele D’Amico, Filippo M. Santorelli, the Italian CMD Network

Orphanet J Rare Dis. 2018; 13: 170. Published online 2018 Sep 26. doi: 10.1186/s13023-018-0863-x

PMCID:: PMC6158856

Abstract Article PDF–820K

Select item 431139718.

Pompe Disease: Literature Review and Case Series

Majed Dasouki, Omar Jawdat, Osama Almadhoun, Mamatha Pasnoor, April L. McVey, Ahmad Abuzinadah, Laura Herbelin, Richard J. Barohn, Mazen M. Dimachkie

Neurol Clin. Author manuscript; available in PMC 2015 Aug 1.

Published in final edited form as: Neurol Clin. 2014 Aug; 32(3): 751–ix. doi: 10.1016/j.ncl.2014.04.010

PMCID:: PMC4311397

Article PDF–960K

Select item 611214619.

Carnitine palmitoyltransferase type 2 deficiency: novel mutation in a Native South American family with whole-body muscle magnetic resonance imaging findings: two case reports

Daniela Avila-Smirnow, Audrey Boutron, María de Los Ángeles Beytía-Reyes, Oscar Contreras-Olea, Alfredo Caicedo-Feijoo, Roger Gejman-Enríquez, Raúl Escobar-Henríquez, Jorge Förster-Mujica

J Med Case Rep. 2018; 12: 249. Published online 2018 Aug 28. doi: 10.1186/s13256-018-1702-3

PMCID:: PMC6112146

Abstract Article PDF–912K

Select item 375725620.

Successful use of albuterol in a patient with central core disease and mitochondrial dysfunction

L. T. W. Schreuder, M. W. G. Nijhuis-van der Sanden, A. de Hair, G. Peters, S. Wortmann, L. A. Bok, E. Morava

J Inherit Metab Dis. 2010; 33(Suppl 3): 205–209. Published online 2010 May 5. doi: 10.1007/s10545-010-9085-7

PMCID:: PMC3757256

Abstract Article PDF–143K

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