{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,11]],"date-time":"2025-09-11T17:48:44Z","timestamp":1757612924951,"version":"3.44.0"},"reference-count":10,"publisher":"BMJ","issue":"3","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["Pract Neurol"],"accepted":{"date-parts":[[2024,11,16]]},"published-print":{"date-parts":[[2025,6]]},"abstract":"<jats:p>HyperCKaemia is common in several myopathies but can accompany other disorders, including neuropathies. However, distinguishing neurogenic from myopathic hyperCKaemia is not always straightforward. A 58-year-old man had experienced muscle cramps and fatiguability since aged 3 years, with persistently high serum creatine kinase (CK). A positive family history prompted genetic testing for Charcot-Marie-Tooth disease type 1A, which was positive. However, his serum CK remained persistently high and neurological examination 17 years later identified diffuse muscle atrophy and weakness. Genetic testing for dystrophinopathy identified a novel missense variant on the <jats:italic>DMD<\/jats:italic> gene. Patients whose serum CK is in \u2018myopathic range\u2019, even those with definite neurogenic disease, should be investigated for additional myopathy, since this may require additional monitoring for pulmonary and cardiac complications.<\/jats:p>","DOI":"10.1136\/pn-2024-004401","type":"journal-article","created":{"date-parts":[[2024,12,5]],"date-time":"2024-12-05T13:15:51Z","timestamp":1733404551000},"page":"264-267","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Neurogenic disease with high CK: think muscle"],"prefix":"10.1136","volume":"25","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8015-2597","authenticated-orcid":false,"given":"Andrea","family":"Barp","sequence":"first","affiliation":[{"name":"NeuroMuscular Omnicentre (NeMO) Trento, Provincia autonoma di Trento Azienda Provinciale per i Servizi Sanitari, Trento, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paola","family":"Tonin","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona, Verona, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Salvatore","family":"Stano","sequence":"additional","affiliation":[{"name":"NeuroMuscular Omnicentre (NeMO) Trento, Provincia autonoma di Trento Azienda Provinciale per i Servizi Sanitari, Trento, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gaetano Nicola","family":"Vattemi","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona, Verona, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marta","family":"Cheli","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona, Verona, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giulia","family":"Marchetto","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona, Verona, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Matteo","family":"De Iorio","sequence":"additional","affiliation":[{"name":"Tecnomed Srl, Centri Diagnostici, Verona, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Riccardo","family":"Zuccarino","sequence":"additional","affiliation":[{"name":"NeuroMuscular Omnicentre (NeMO) Trento, Provincia autonoma di Trento Azienda Provinciale per i Servizi Sanitari, Trento, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2024,12,5]]},"reference":[{"key":"2025090409292141000_25.3.264.1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1468-1331.2010.03012.x"},{"key":"2025090409292141000_25.3.264.2","doi-asserted-by":"publisher","DOI":"10.1002\/mus.21310"},{"key":"2025090409292141000_25.3.264.3","doi-asserted-by":"crossref","first-page":"607","DOI":"10.1002\/acn3.51979","article-title":"Lower limb muscle MRI fat fraction is a responsive outcome measure in CMT X1, 1B and 2A","volume":"11","author":"Doherty","year":"2024","journal-title":"Ann Clin Transl Neurol"},{"key":"2025090409292141000_25.3.264.4","doi-asserted-by":"crossref","first-page":"170","DOI":"10.1002\/ana.26934","article-title":"Quantitative Foot Muscle Magnetic Resonance Imaging Reliably Measures Disease Progression in Children and Adolescents with Charcot-Marie-Tooth Disease Type 1A","volume":"96","author":"Doherty","year":"2024","journal-title":"Ann Neurol"},{"key":"2025090409292141000_25.3.264.5","doi-asserted-by":"crossref","DOI":"10.1038\/s41598-017-16170-2","article-title":"Muscle MRI and functional outcome measures in Becker muscular dystrophy","volume":"7","author":"Barp","year":"2017","journal-title":"Sci Rep"},{"key":"2025090409292141000_25.3.264.6","doi-asserted-by":"crossref","first-page":"S100","DOI":"10.1016\/j.nmd.2012.05.015","article-title":"Muscle MRI in Becker muscular dystrophy","volume":"22 Suppl 2","author":"Tasca","year":"2012","journal-title":"Neuromuscul Disord"},{"key":"2025090409292141000_25.3.264.7","unstructured":"Genoox platform, open professional genomic community \"Frankling By Genoox\" . 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