Dysferlinopathy misdiagnosed with juvenile polymyositis in the pre-symptomatic stage of hyperCKemia: a case report and literature review.
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| Title: | Dysferlinopathy misdiagnosed with juvenile polymyositis in the pre-symptomatic stage of hyperCKemia: a case report and literature review. |
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| Authors: | Contreras-Cubas C; Immunogenomics and Metabolic Diseases Laboratory, National Institute of Genomic Medicine, SS, Mexico City, Mexico., Barajas-Olmos F; Immunogenomics and Metabolic Diseases Laboratory, National Institute of Genomic Medicine, SS, Mexico City, Mexico., Frayre-Martínez MI; Department of Neurophysiology, Hospital de Pediatría, CMN Siglo XXI IMSS, Mexico City, Mexico., Siordia-Reyes G; Department of Pathology, Hospital de Pediatría, CMN Siglo XXI IMSS, Mexico City, Mexico., Guízar-Sánchez CC; Department of Physical Medicine and Rehabilitation, Hospital de Pediatría, CMN Siglo XXI IMSS, Mexico City, Mexico., García-Ortiz H; Immunogenomics and Metabolic Diseases Laboratory, National Institute of Genomic Medicine, SS, Mexico City, Mexico., Orozco L; Immunogenomics and Metabolic Diseases Laboratory, National Institute of Genomic Medicine, SS, Mexico City, Mexico., Baca V; Department of Rheumatology, Hospital de Pediatría, CMN Siglo XXI IMSS, Mexico City, Mexico. vicbaca@infinitummail.com. |
| Source: | BMC medical genomics [BMC Med Genomics] 2022 Jun 20; Vol. 15 (1), pp. 139. Date of Electronic Publication: 2022 Jun 20. |
| Publication Type: | Case Reports; Journal Article; Review |
| Journal Info: | Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium: Internet ISSN: 1755-8794 (Electronic) Linking ISSN: 17558794 NLM ISO Abbreviation: BMC Med Genomics Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1755-8794 |
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| DOI: | 10.1186/s12920-022-01284-y |
