Dysferlinopathy misdiagnosed with juvenile polymyositis in the pre-symptomatic stage of hyperCKemia: a case report and literature review.

Contreras-Cubas, Cecilia; Barajas-Olmos, Francisco; Frayre-Martínez, Maria Inés; Siordia-Reyes, Georgina; Guízar-Sánchez, Claudia C; García-Ortiz, Humberto; Orozco, Lorena; Baca, Vicente

Contreras-Cubas, Cecilia; Barajas-Olmos, Francisco; Frayre-Martínez, Maria Inés; Siordia-Reyes, Georgina; Guízar-Sánchez, Claudia C; García-Ortiz, Humberto; Orozco, Lorena; Baca, Vicente.

Afiliação

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.

BMC Med Genomics ; 15(1): 139, 2022 06 20.

Article em En | MEDLINE | ID: mdl-35725460

Assuntos

Distrofia Muscular do Cíngulo dos Membros; Distrofias Musculares; Polimiosite; Creatina Quinase; Erros de Diagnóstico; Disferlina/genética; Humanos; Inflamação; Masculino; Distrofias Musculares/diagnóstico; Distrofia Muscular do Cíngulo dos Membros/diagnóstico; Distrofia Muscular do Cíngulo dos Membros/genética; Distrofia Muscular do Cíngulo dos Membros/patologia; Polimiosite/diagnóstico

Palavras-chave

Case report; Dysferlinopathy; Limb-girdle muscular dystrophy; Polymyositis; Whole exome sequencing

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Polimiosite / Distrofia Muscular do Cíngulo dos Membros / Distrofias Musculares Tipo de estudo: Diagnostic_studies Limite: Humans / Male Idioma: En Ano de publicação: 2022 Tipo de documento: Article

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