Publications:

A recurrent single-amino acid deletion (p.Glu500del) in the head domain of ß-cardiac myosin in two unrelated boys presenting with polyhydramnios, congenital axial stiffness and skeletal myopathy.

Orphanet Journal Of Rare Diseases

Bader, Ingrid I; Freilinger, M M; Landauer, F F; Waldmüller, S S; Mueller-Felber, W W; Rauscher, C C; Sperl, W W; Bittner, R E RE; Schmidt, W M WM; Mayr, J A JA

Publication Date: 2022-07-19

Variant appearance in text: MYH7: Leu594Met

PubMed Link: 35854315

Variant Present in the following documents:

• Main text
• 13023_2022_Article_2421.pdf

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Identification of Immune-Related Gene Signatures in Lung Adenocarcinoma and Lung Squamous Cell Carcinoma.

Frontiers In Immunology

Li, Na N; Wang, Jiahong J; Zhan, Xianquan X

Publication Date: 2021

Variant appearance in text: MYH7: 1780C>A; Leu594Met

PubMed Link: 34887858

Variant Present in the following documents:

• Table_4.xlsx, sheet 1

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A novel missense mutation in the MYH7 gene causes an uncharacteristic phenotype of myosin storage myopathy: a case report.

Bmc Medical Genetics

Mamelona, Jean J; Filice, Louisa L; Oussedik, Youcef Y; Crapoulet, Nicolas N; Ouellette, Rodney J RJ; Marrero, Alier A

Publication Date: 2019-05-08

Variant appearance in text: MYH7: 1780C>A; Leu594Met

PubMed Link: 31068177

Variant Present in the following documents:

• Main text
• 12881_2019_Article_804.pdf

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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: Leu594Met

PubMed Link: 27387980

Variant Present in the following documents:

• Main text
• 13023_2016_Article_476.pdf

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