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https://hdl.handle.net/1822/67234
Título: | p.G360R Is a Pathogenic GLA Gene Mutation Responsible for a Classic Phenotype of Fabry Disease |
Autor(es): | Carvalho Silva, Daniela Marisa Marques, Nuno Azevedo, Olga Miltenberger-Miltenyi, Gabriel Bento, Dina Guedes, João Azevedo, Pedro Bispo, João Mota, Teresa Fernandes, Raquel Nzwalo, Hipólito Cabrita, Ana Ramos, André de Jesus, Ilídio |
Palavras-chave: | Echocardiography Fabry Disease Humans Male Middle Aged Mutation, Missense Phenotype alpha-Galactosidase Classic phenotype Missense mutation GLA gene p G360R p.G360R |
Data: | 2019 |
Editora: | Karger Publishers |
Revista: | Cardiology |
Citação: | Silva, D. M. C., Marques, N., Azevedo, O., Miltenberger-Miltenyi, G., Bento, D., Guedes, J., ... & Nzwalo, H. (2019). p. G360R Is a Pathogenic GLA Gene Mutation Responsible for a Classic Phenotype of Fabry Disease. Cardiology, 144(3-4), 125-130 |
Resumo(s): | The authors report the case of a classic phenotype of Fabry disease in a 60-year-old male patient presenting with left ventricular hypertrophy and stroke. Genetic analysis revealed 2 GLA-gene variants, i.e., p.R356Q and p.G360R. This clinical case highlights that the finding of 2 or more GLA gene variants in a Fabry patient should lead to a careful evaluation in order to determine their exact role in the condition. This case also provides the first clinical evidence that the p.G360R mutation is pathogenic and responsible for a classic phenotype of Fabry disease. The clinical improvement following the initiation of enzyme replacement therapy reinforces the importance of Fabry disease awareness and diagnosis in patients exhibiting red flags, such as left ventricular hypertrophy and stroke. |
Tipo: | Artigo |
URI: | https://hdl.handle.net/1822/67234 |
DOI: | 10.1159/000502437 |
ISSN: | 0008-6312 |
e-ISSN: | 1421-9751 |
Versão da editora: | https://www.karger.com/Article/Abstract/502437 |
Arbitragem científica: | yes |
Acesso: | Acesso restrito autor |
Aparece nas coleções: | ICVS - Artigos em revistas internacionais / Papers in international journals |
Ficheiros deste registo:
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10.1159@000502437.pdf Acesso restrito! | 558,22 kB | Adobe PDF | Ver/Abrir |