Phenotypic heterogeneity in two large Roma families with a congenital myasthenic syndrome due to CHRNE 1267delG mutation. A long-term follow-up
| العنوان: | Phenotypic heterogeneity in two large Roma families with a congenital myasthenic syndrome due to CHRNE 1267delG mutation. A long-term follow-up |
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| المؤلفون: | D. Natera-de Benito, Andrés Nascimento, Juan J. Vílchez, Nuria Muelas, Carlos Ortez, Teresa Jaijo, J. Domínguez-Carral, Jaume Colomer, R. Arteaga |
| المصدر: | NEUROMUSCULAR DISORDERS r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu instname Neuromuscular disorders : NMD r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu Fundació Sant Joan de Déu |
| سنة النشر: | 2016 |
| مصطلحات موضوعية: | 0301 basic medicine, Male, Pediatrics, Roma, Acetylcholine receptor, Neuromuscular junction, Pyridostigmine, Disease, Receptors, Nicotinic, 0302 clinical medicine, CHRNE, Child, Genetics (clinical), Genetics, Facial weakness, Congenital myasthenic syndrome, Middle Aged, Phenotype, Neurology, Mutation (genetic algorithm), Congenital myasthenia, Female, medicine.symptom, Adult, medicine.medical_specialty, Neck muscle weakness, Adolescent, Biology, 03 medical and health sciences, Young Adult, 3,4-Diaminopyridine, medicine, Humans, Family, Allele, Founder mutation, Myasthenic Syndromes, Congenital, Roma gypsies, Genetic heterogeneity, medicine.disease, 030104 developmental biology, Spain, Pediatrics, Perinatology and Child Health, Mutation, biology.protein, Neurology (clinical), 030217 neurology & neurosurgery, Follow-Up Studies |
| الوصف: | Congenital myasthenic syndromes (CMS) are a heterogeneous group of genetic disorders. Mutations in CHRNE are one of the most common cause of them and the epsilon 1267delG frameshifting mutation is described to be present on at least one allele of 60% of patients with CHRNE mutations. We present a comprehensive description of the heterogeneous clinical features of the CMS caused by the homozygous 1267delG mutation in the AChR epsilon subunit in nine members of two large Gipsy kindreds. Our observations indicate that founder Roma mutation 1267delG leads to a phenotype further characterized by ophthalmoplegia, bilateral ptosis, and good response to pyridostigmine and 3,4-DAP; but also by facial weakness, bulbar symptoms, neck muscle weakness, and-proximal limb weakness that sometimes entails the loss of ambulation. Interestingly, we found in our series a remarkable proportion of patients with a progressive or fluctuating course of the disease. This finding is in some contrast with previous idea that considered this form of CMS as benign, non progressive, and with a low impact on the capacity of ambulation. (C) 2016 Elsevier B.V. All rights reserved. |
| تدمد: | 1873-2364 0960-8966 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0dbc0b1a1b7a90461d7028b21e6fad9cTest https://pubmed.ncbi.nlm.nih.gov/27634344Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....0dbc0b1a1b7a90461d7028b21e6fad9c |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 18732364 09608966 |
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