Milder forms of alpha-sarcoglicanopathies diagnosed in adulthood by NGS analysis
| العنوان: | Milder forms of alpha-sarcoglicanopathies diagnosed in adulthood by NGS analysis |
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| المؤلفون: | Cantero, D, Hernandez-Lain, A, Martinez, JFG, Perez, MR, Ruano, Y, Lleixa, C, Gallardo, E, Dominguez-Gonzalez, C |
| المصدر: | JOURNAL OF THE NEUROLOGICAL SCIENCES r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau instname |
| بيانات النشر: | ELSEVIER, 2018. |
| سنة النشر: | 2018 |
| مصطلحات موضوعية: | Sarcoglicanopathies, SGCA, Limb-girdle muscular dystrophies, Next generation sequencing, Western-blot, Immunohistochemistry |
| الوصف: | Introduction: Sarcoglycanopathies (LGMD 2C-2F) are a subgroup of limb-girdle muscular dystrophies (LGMD), caused by mutations in sarcoglycan genes. They usually have a childhood onset and rapidly progressive course with loss of ability to walk over 12-16 years. Methods: Next generation sequencing (NGS) targeted gene panel was performed in three adult patients with progressive muscle weakness in which routine muscle histology and immunohistochemistry were not diagnostic. Results: Genetic analysis revealed homozygous or compound heterozygous mutations in SGCA gene and Western Blot demonstrated protein reduction confirming the diagnosis of alpha-sarcoglicanopathy. Discussion: Our cases evidence that the diagnosis of mild forms of alfa sarcoglicanopathy could be a challenge and suggest the possibility that they could be underdiagnosed. The use of Next generation Sequencing targeted gene panels is very helpful in the diagnosis of these patients. |
| تدمد: | 0022-510X |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::c66d9ccd540023043231cfc3a43af84cTest https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=3218Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.RECOLECTA.....c66d9ccd540023043231cfc3a43af84c |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 0022510X |
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