Incidental severe fatty degeneration of the erector spinae in a patient with L5-S1 disc extrusion diagnosed with limb-girdle muscular dystrophy R2 dysferin-related
DC Field | Value | Language |
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dc.contributor.author | Kim, D.H. | - |
dc.contributor.author | Jang, D.-H. | - |
dc.contributor.author | Jang, J.-H. | - |
dc.date.accessioned | 2023-03-08T13:59:02Z | - |
dc.date.available | 2023-03-08T13:59:02Z | - |
dc.date.issued | 2020-08 | - |
dc.identifier.issn | 2075-4418 | - |
dc.identifier.issn | 2075-4418 | - |
dc.identifier.uri | https://scholarworks.bwise.kr/cau/handle/2019.sw.cau/63356 | - |
dc.description.abstract | 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-S1 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>C]; [5303G>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. © 2020 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/). | - |
dc.language | 영어 | - |
dc.language.iso | ENG | - |
dc.publisher | MDPI AG | - |
dc.title | Incidental severe fatty degeneration of the erector spinae in a patient with L5-S1 disc extrusion diagnosed with limb-girdle muscular dystrophy R2 dysferin-related | - |
dc.type | Article | - |
dc.identifier.doi | 10.3390/diagnostics10080530 | - |
dc.identifier.bibliographicCitation | Diagnostics, v.10, no.8 | - |
dc.description.isOpenAccess | Y | - |
dc.identifier.wosid | 000564684600001 | - |
dc.identifier.scopusid | 2-s2.0-85089901918 | - |
dc.citation.number | 8 | - |
dc.citation.title | Diagnostics | - |
dc.citation.volume | 10 | - |
dc.type.docType | Article | - |
dc.publisher.location | 스위스 | - |
dc.subject.keywordAuthor | Axial myopathy | - |
dc.subject.keywordAuthor | Dysferlinopathy | - |
dc.subject.keywordAuthor | Limb-girdle muscular dystrophy | - |
dc.subject.keywordAuthor | Lumbar disc | - |
dc.subject.keywordPlus | alanine aminotransferase | - |
dc.subject.keywordPlus | aspartate aminotransferase | - |
dc.subject.keywordPlus | autoantibody | - |
dc.subject.keywordPlus | creatine kinase | - |
dc.subject.keywordPlus | dysferlin | - |
dc.subject.keywordPlus | genomic DNA | - |
dc.subject.keywordPlus | steroid | - |
dc.subject.keywordPlus | achilles reflex | - |
dc.subject.keywordPlus | adductor magnus muscle | - |
dc.subject.keywordPlus | adult | - |
dc.subject.keywordPlus | Article | - |
dc.subject.keywordPlus | backache | - |
dc.subject.keywordPlus | blood analysis | - |
dc.subject.keywordPlus | body mass | - |
dc.subject.keywordPlus | buttock | - |
dc.subject.keywordPlus | case report | - |
dc.subject.keywordPlus | clinical article | - |
dc.subject.keywordPlus | clinical examination | - |
dc.subject.keywordPlus | clinical feature | - |
dc.subject.keywordPlus | computer assisted tomography | - |
dc.subject.keywordPlus | conservative treatment | - |
dc.subject.keywordPlus | creatine kinase blood level | - |
dc.subject.keywordPlus | dermatome | - |
dc.subject.keywordPlus | electrocardiogram | - |
dc.subject.keywordPlus | electrodiagnosis | - |
dc.subject.keywordPlus | electromyography | - |
dc.subject.keywordPlus | erector spinae muscle | - |
dc.subject.keywordPlus | fifth lumbar vertebra | - |
dc.subject.keywordPlus | follow up | - |
dc.subject.keywordPlus | gene sequence | - |
dc.subject.keywordPlus | genetic association | - |
dc.subject.keywordPlus | genetic screening | - |
dc.subject.keywordPlus | hamstring muscle | - |
dc.subject.keywordPlus | heterozygote | - |
dc.subject.keywordPlus | human | - |
dc.subject.keywordPlus | immunohistochemistry | - |
dc.subject.keywordPlus | incidental finding | - |
dc.subject.keywordPlus | intervertebral disk hernia | - |
dc.subject.keywordPlus | laboratory test | - |
dc.subject.keywordPlus | leg pain | - |
dc.subject.keywordPlus | limb girdle muscular dystrophy | - |
dc.subject.keywordPlus | limb girdle muscular dystrophy type r2 dysferin related | - |
dc.subject.keywordPlus | limb weakness | - |
dc.subject.keywordPlus | liver fatty degeneration | - |
dc.subject.keywordPlus | liver function test | - |
dc.subject.keywordPlus | lumbar spine | - |
dc.subject.keywordPlus | male | - |
dc.subject.keywordPlus | medical history | - |
dc.subject.keywordPlus | motor unit potential | - |
dc.subject.keywordPlus | myopathy | - |
dc.subject.keywordPlus | nuclear magnetic resonance imaging | - |
dc.subject.keywordPlus | numeric rating scale | - |
dc.subject.keywordPlus | pain severity | - |
dc.subject.keywordPlus | physical examination | - |
dc.subject.keywordPlus | physiotherapy | - |
dc.subject.keywordPlus | pinprick test | - |
dc.subject.keywordPlus | radiculopathy | - |
dc.subject.keywordPlus | range of motion | - |
dc.subject.keywordPlus | Sanger sequencing | - |
dc.subject.keywordPlus | supine position | - |
dc.subject.keywordPlus | tendon reflex | - |
dc.subject.keywordPlus | touch | - |
dc.relation.journalResearchArea | General & Internal Medicine | - |
dc.relation.journalWebOfScienceCategory | Medicine, General & Internal | - |
dc.description.journalRegisteredClass | scie | - |
dc.description.journalRegisteredClass | scopus | - |
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