{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T06:20:12Z","timestamp":1791872412273,"version":"4.3.4"},"reference-count":14,"publisher":"MDPI AG","issue":"8","license":[{"start":{"date-parts":[[2020,7,29]],"date-time":"2020-07-29T00:00:00Z","timestamp":1595980800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diagnostics"],"abstract":"<jats:p>Limb-girdle muscular dystrophy type R2 dysferin-related (LGMD R2 dysferin-related), a phenotype of dysferlinopathy, usually begins with pelvic girdle weakness. A 35-year-old male presented with right leg pain for 2 weeks without a previous history of limb weakness. Magnetic resonance imaging of the lumbar spine showed disc extrusion at L5\u2013S1 and incidental severe fatty degeneration of the lumbar erector spinae. Physical examination demonstrated no definite limb weakness. Serum creatine kinase levels were elevated. Genetic testing using a targeted gene-sequencing panel identified compound heterozygous variants NM_003494.3(DYSF) c.[1284+2T&gt;C]; [5303G&gt;A]. Computed tomography revealed fatty degeneration of lower-limb muscles, which was mild in the adductor muscles and severe in the gluteus minimus. Immunohistochemistry staining of the vastus lateralis showed under-expression of dysferlin. This patient was diagnosed with LGMD R2 dysferin-related. Thus, unusual fatty degeneration of the lumbar paraspinalis can be a manifestation of dysferlinopathy.<\/jats:p>","DOI":"10.3390\/diagnostics10080530","type":"journal-article","created":{"date-parts":[[2020,7,30]],"date-time":"2020-07-30T03:36:38Z","timestamp":1596080198000},"page":"530","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Incidental Severe Fatty Degeneration of the Erector Spinae in a Patient with L5\u2013S1 Disc Extrusion Diagnosed with Limb-Girdle Muscular Dystrophy R2 Dysferin-Related"],"prefix":"10.3390","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9980-8549","authenticated-orcid":false,"given":"Du Hwan","family":"Kim","sequence":"first","affiliation":[{"name":"Department of Physical Medicine and Rehabilitation, College of Medicine, Chung-Ang University, 102 Heukseok-ro, Dongjak-gu, Seoul 06973, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dae-Hyun","family":"Jang","sequence":"additional","affiliation":[{"name":"Department of Rehabilitation Medicine, College of Medicine, The Catholic University of Korea, Seoul 06591, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ja-Hyun","family":"Jang","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 06351, Korea"},{"name":"Green Cross Genome, Yongin 16924, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2020,7,29]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1002\/mus.25045","article-title":"Broadening the imaging phenotype of dysferlinopathy at different disease stages","volume":"54","author":"Diaz","year":"2016","journal-title":"Muscle Nerve"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"702","DOI":"10.1016\/j.nmd.2018.05.007","article-title":"229th ENMC international workshop: Limb girdle muscular dystrophies\u2014Nomenclature and reformed classification Naarden, The Netherlands, 17\u201319 March 2017","volume":"28","author":"Straub","year":"2018","journal-title":"Neuromuscul. 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Med Genet."},{"key":"ref_9","doi-asserted-by":"crossref","unstructured":"Jalali-Sefid-Dashti, M., Nel, M., Heckmann, J.M., and Gamieldien, J. (2018). Exome sequencing identifies novel dysferlin mutation in a family with pauci-symptomatic heterozygous carriers. BMC Med. Genet., 19.","DOI":"10.1186\/s12881-018-0613-x"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"610","DOI":"10.1097\/WCO.0000000000000597","article-title":"Exercise in muscle disorders: What is our current state?","volume":"31","author":"Preisler","year":"2018","journal-title":"Curr. Opin. 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