دورية أكاديمية
Genotypic and phenotypic features of all Spanish patients with McArdle disease: a 2016 update
| العنوان: | Genotypic and phenotypic features of all Spanish patients with McArdle disease: a 2016 update |
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| المؤلفون: | Alfredo Santalla, Gisela Nogales-Gadea, Alberto Blázquez Encinar, Irene Vieitez, Adrian González-Quintana, Pablo Serrano-Lorenzo, Inés García Consuegra, Sara Asensio, Alfonsina Ballester-Lopez, Guillem Pintos-Morell, Jaume Coll-Cantí, Helios Pareja-Galeano, Jorge Díez-Bermejo, Margarita Pérez, Antoni L. Andreu, Tomàs Pinós, Joaquín Arenas, Miguel A. Martín, Alejandro Lucia |
| المصدر: | BMC Genomics, Vol 18, Iss S8, Pp 39-47 (2017) |
| بيانات النشر: | BMC, 2017. |
| سنة النشر: | 2017 |
| المجموعة: | LCC:Biotechnology LCC:Genetics |
| مصطلحات موضوعية: | McArdle disease, Spanish patients, Genotype, Phenotype, Glycogenosis type V, Biotechnology, TP248.13-248.65, Genetics, QH426-470 |
| الوصف: | Abstract Background We recently described the genotype/phenotype features of all Spanish patients diagnosed with McArdle disease as of January 2011 (n = 239, prevalence of ~1/167,000) (J Neurol Neurosurg Psychiatry 2012;83:322–8). Several caveats were however identified suggesting that the prevalence of the disease is actually higher. Methods We have now updated main genotype/phenotype data, as well as potential associations within/between them, of all Spanish individuals currently diagnosed with McArdle disease (December 2016). Results Ninety-four new patients (all Caucasian) have been diagnosed, yielding a prevalence of ~1/139,543 individuals. Around 55% of the mutated alleles have the commonest PYGM pathogenic mutation p.R50X, whereas p.W798R and p.G205S account for 10 and 9% of the allelic variants, respectively. Seven new mutations were identified: p.H35R, p.R70C, p.R94Q, p.L132WfsX163, p.Q176P, p.R576Q, and c.244-3_244-2CA. Almost all patients show exercise intolerance, the second wind phenomenon and high serum creatine kinase activity. There is, however, heterogeneity in clinical severity, with 8% of patients being asymptomatic during normal daily life, and 21% showing limitations during daily activities and fixed muscle weakness. A major remaining challenge is one of diagnosis, which is often delayed until the third decade of life in 72% of new patients despite the vast majority (86%) reporting symptoms before 20 years. An important development is the growing proportion of those reporting a 4-year improvement in disease severity (now 34%) and following an active lifestyle (50%). Physically active patients are more likely to report an improvement after a 4-year period in the clinical course of the disease than their inactive peers (odds ratio: 13.98; 95% confidence interval: 5.6, 34.9; p |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 1471-2164 |
| العلاقة: | http://link.springer.com/article/10.1186/s12864-017-4188-2Test; https://doaj.org/toc/1471-2164Test |
| DOI: | 10.1186/s12864-017-4188-2 |
| الوصول الحر: | https://doaj.org/article/59b83f2c1ec94ef6ac54173fb34c8252Test |
| رقم الانضمام: | edsdoj.59b83f2c1ec94ef6ac54173fb34c8252 |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 14712164 |
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| DOI: | 10.1186/s12864-017-4188-2 |