However, gastrointestinal and myopathic involvement was difficult to manage, requiring ventilatory support and parenteral nutrition.
carmenza Liliana Sandoval, Bernarda Jinneth Acosta, Oscar Contreras, Jorge Vargas 2018, 'Multiple myeloma and light-chain amyloidosis: a rare presentation', Case Reportshttps://revistas.unal.edu.co/index.php/care/article/view/69047. Retrieved from DOAJ CC BY 4.0 (https://creativecommons.org/licenses/by-sa/4.0/legalcode)
Additionally, expression of both slow and fast isoforms was increased in myopathic skeletal muscles.
Brian Lin, Suresh Govindan, Kyounghwan Lee, Piming Zhao, Renzhi Han, K. ElisabethRunte, Roger Craig, Bradley M. Palmer, Sakthivel Sadayappan 2013, 'Cardiac Myosin Binding Protein-C Plays No Regulatory Role in Skeletal Muscle Structureand Function', PLoS ONE10.1371/journal.pone.0069671. Retrieved from PLOS CC BY 4.0 (https://creativecommons.org/licenses/by-sa/4.0/legalcode)
Electromyography revealed diverse findings such as normal, myopathic and neuropathic patterns.
Scola Rosana Herminia, Werneck Lineu Cesar, Prevedello Daniel Monte Serrat, GrebogePriscila, Iwamoto Fábio Massaiti 2001, 'Symptomatic muscle involvement in neurosarcoidosis: a clinicopathological study of5 cases', Arquivos de Neuro-Psiquiatriahttp://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2001000300007. Retrieved from DOAJ CC BY 4.0 (https://creativecommons.org/licenses/by-sa/4.0/legalcode)
The exact molecular mechanisms by which these specific defects induce myopathic phenotypes remain unclear.
Jun Fan, Jun Fan, Chun Chan, Elyshia L. McNamara, Kristen J. Nowak, Kristen J. Nowak,Kristen J. Nowak, Hiroyuki Iwamoto, Julien Ochala 2018, 'Molecular Consequences of the Myopathy-Related D286G Mutation on Actin Function',Frontiers in Physiologyhttps://www.frontiersin.org/article/10.3389/fphys.2018.01756/full. Retrieved from DOAJ CC BY 4.0 (https://creativecommons.org/licenses/by-sa/4.0/legalcode)
Needle electromyography showed myopathic features and nerve conduction study was normal.
Scola Rosana Herminia, Lin Kátia, Iwamoto Fábio Massaiti, Arruda Walter Oleschko,Werneck Lineu Cesar 2003, 'Ankylosing spondylitis and central core disease: case report', Arquivos de Neuro-Psiquiatriahttp://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2003000400031. Retrieved from DOAJ CC BY 4.0 (https://creativecommons.org/licenses/by-sa/4.0/legalcode)
In the investigation a myopathic pattern was found in the electromyography.
Scola Rosana Herminia, Werneck Lineu César, Heinig Marcelo Eduardo, Milano JerônimoBuzetti, Almeida Sérgio Monteiro de, Arruda Walter O. 2001, 'Inflammatory myopathy on HTLV-I infection: case report', Arquivos de Neuro-Psiquiatriahttp://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2001000100025. Retrieved from DOAJ CC BY 4.0 (https://creativecommons.org/licenses/by-sa/4.0/legalcode)
The electromyography presented myopathic pattern and during the ischemic exerciseelectric silence was not proven.
Paulo José Lorenzoni, Marcos Cristiano Lange, Cláudia Suely Kamoi Kay, Rosana HerminiaScola, Lineu César Werneck 2005, 'Estudo da condução nervosa motora na doença de McArdle: relato de caso Motor nerveconduction study in McArdle disease: case report', Arquivos de Neuro-Psiquiatriahttp://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2005000500031. Retrieved from DOAJ CC BY 4.0 (https://creativecommons.org/licenses/by-sa/4.0/legalcode)
Creatinine kinase was mildly elevated and electromyography revealed myopathic features.
Aralikatte Onkarappa Saroja, Karkal Ravishankar Naik, Atcharayam Nalini, NarayanappaGayathri 2013, 'Bethlem myopathy: An autosomal dominant myopathy with flexion contractures, keloids,and follicular hyperkeratosis', Annals of Indian Academy of Neurologyhttp://www.annalsofian.org/article.asp?issn=0972-2327;year=2013;volume=16;issue=4;spage=712;epage=715;aulast=Saroja. Retrieved from DOAJ CC BY 4.0 (https://creativecommons.org/licenses/by-sa/4.0/legalcode)
However, there was persistence of mild myopathic changes after simvastatin cessation, indicating partial recovery.
Ayat Allah Farouk, Fawzia El-Stoohy, Sharifa El-Arab Ali, Hanaa Abd El-Atty, LeilaRashed, Noha Abo krysha, Shaymaa Mohammed 2012, 'Influence of Stem Cell Therapy on Statin-induced Myopathy of Skeletal Muscle in FemaleRats', Türk Nöroloji Dergisihttp://www.tjn.org.tr/jvi.aspx?pdir=tjn&plng=eng&un=TJN-88709. Retrieved from DOAJ CC BY 4.0 (https://creativecommons.org/licenses/by-sa/4.0/legalcode)
Muscle biopsy tissue from a patient showed myopathic features, including small basophilic fibers with vacuoles.
Mahoney Lane J, Lidov Hart GW, Estrella Elicia A, Duncan Anna R, Boyden Steven E,Katz Jonathan S, Kunkel Louis M, Kang Peter B 2011, 'Molecular diagnosis of hereditary inclusion body myopathy by linkage analysis andidentification of a novel splice site mutation in GNE', BMC Medical Geneticshttp://www.biomedcentral.com/1471-2350/12/87. Retrieved from DOAJ CC BY 4.0 (https://creativecommons.org/licenses/by-sa/4.0/legalcode)