Publications:

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

Orphanet Journal Of Rare Diseases

Fiorillo, C C; Astrea, G G; Savarese, M M; Cassandrini, D D; Brisca, G G; Trucco, F F; Pedemonte, M M; Trovato, R R; Ruggiero, L L; Vercelli, L L; D'Amico, A A; Tasca, G G; Pane, M M; Fanin, M M; Bello, L L; Broda, P P; Musumeci, O O; Rodolico, C C; Messina, S S; Vita, G L GL; Sframeli, M M; Gibertini, S S; Morandi, L L; Mora, M M; Maggi, L L; Petrucci, A A; Massa, R R; Grandis, M M; Toscano, A A; Pegoraro, E E; Mercuri, E E; Bertini, E E; Mongini, T T; Santoro, L L; Nigro, V V; Minetti, C C; Santorelli, F M FM; Bruno, C C; ,

Publication Date: 2016-07-07

Variant appearance in text: MYH7: Ser1435Pro

PubMed Link: 27387980

Variant Present in the following documents:

• Main text
• 13023_2016_Article_476.pdf

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Myoimaging in the NGS era: the discovery of a novel mutation in MYH7 in a family with distal myopathy and core-like features--a case report.

Bmc Medical Genetics

Astrea, Guja G; Petrucci, Antonio A; Cassandrini, Denise D; Savarese, Marco M; Trovato, Rosanna R; Lispi, Ludovico L; Rubegni, Anna A; Giacanelli, Manlio M; Massa, Roberto R; Nigro, Vincenzo V; Santorelli, Filippo M FM

Publication Date: 2016-03-22

Variant appearance in text: MYH7: Ser1435Pro

PubMed Link: 27005958

Variant Present in the following documents:

• Main text
• 12881_2016_Article_288.pdf

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XV CONGRESS OF THE ITALIAN SOCIETY OF MYOLOGY Naples, Italy - May 20-23, 2015 - Program (Summary).

Acta Myologica : Myopathies And Cardiomyopathies : Official Journal Of The Mediterranean Society Of Myology

Publication Date: 2015-05

Variant appearance in text: MYH7: Ser1435Pro

PubMed Link: 26155067

Variant Present in the following documents:

• 1128-2460-34-37.pdf

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