Expanding the importance of HMERF titinopathy: new mutations and clinical aspects

OBJECTIVE: Hereditary myopathy with early respiratory failure (HMERF) is caused by titin A-band mutations in exon 344 and considered quite rare. Respiratory insufficiency is an early symptom. A collection of families and patients with muscle disease suggestive of HMERF was clinically and genetically...

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Detalles Bibliográficos
Autores principales: Palmio, Johanna, Leonard-Louis, Sarah, Sacconi, Sabrina, Savarese, Marco, Penttilä, Sini, Semmler, Anna-Lena, Kress, Wolfram, Mozaffar, Tahseen, Lai, Tim, Stojkovic, Tanya, Berardo, Andres, Reisin, Ricardo, Attarian, Shahram, Urtizberea, Andoni, Cobo, Ana Maria, Maggi, Lorenzo, Kurbatov, Sergei, Nikitin, Sergei, Milisenda, José C., Fatehi, Farzad, Raimondi, Monika, Silveira, Fernando, Hackman, Peter, Claeys, Kristl G., Udd, Bjarne
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2019
Materias:
Original Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6394805/
https://www.ncbi.nlm.nih.gov/pubmed/30666435
http://dx.doi.org/10.1007/s00415-019-09187-2

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