A Roma founder BIN1 mutation causes a novel phenotype of centronuclear myopathy with rigid spine

OBJECTIVE: To describe a large series of BIN1 patients, in which a novel founder mutation in the Roma population of southern Spain has been identified. METHODS: Patients diagnosed with centronuclear myopathy (CNM) at 5 major reference centers for neuromuscular disease in Spain (n = 53) were screened...

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Detaylı Bibliyografya
Yayımlandı:Neurology
Asıl Yazarlar: Cabrera-Serrano, Macarena, Mavillard, Fabiola, Biancalana, Valerie, Rivas, Eloy, Morar, Bharti, Hernández-Laín, Aurelio, Olive, Montse, Muelas, Nuria, Khan, Eduardo, Carvajal, Alejandra, Quiroga, Pablo, Diaz-Manera, Jordi, Davis, Mark, Ávila, Rainiero, Domínguez, Cristina, Romero, Norma Beatriz, Vílchez, Juan J., Comas, David, Laing, Nigel G., Laporte, Jocelyn, Kalaydjieva, Luba, Paradas, Carmen
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Lippincott Williams & Wilkins 2018
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Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC6070382/
https://ncbi.nlm.nih.gov/pubmed/29950440
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0000000000005862
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