MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients

BACKGROUND: Myosin heavy chain 7 (MYH7)-related myopathies are emerging as an important group of muscle diseases of childhood and adulthood, with variable clinical and histopathological expression depending on the type and location of the mutation. Mutations in the head and neck domains are a well-e...

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書目詳細資料
發表在:Orphanet J Rare Dis
Main Authors: Fiorillo, C., Astrea, G., Savarese, M., Cassandrini, D., Brisca, G., Trucco, F., Pedemonte, M., Trovato, R., Ruggiero, L., Vercelli, L., D’Amico, A., Tasca, G., Pane, M., Fanin, M., Bello, L., Broda, P., Musumeci, O., Rodolico, C., Messina, S., Vita, G. L., Sframeli, M., Gibertini, S., Morandi, L., Mora, M., Maggi, L., Petrucci, A., Massa, R., Grandis, M., Toscano, A., Pegoraro, E., Mercuri, E., Bertini, E., Mongini, T., Santoro, L., Nigro, V., Minetti, C., Santorelli, F. M., Bruno, C.
格式: Artigo
語言:Inglês
出版: BioMed Central 2016
主題:
Research
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC4936326/
https://ncbi.nlm.nih.gov/pubmed/27387980
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-016-0476-1
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