Publications:

Disease mutations in striated muscle myosins.

Biophysical Reviews

Parker, Francine F; Peckham, Michelle M

Publication Date: 2020-08

Variant appearance in text: MYH7: Leu1779Pro

PubMed Link: 32651905

Variant Present in the following documents:

• 12551_2020_721_MOESM1_ESM.pdf

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Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy.

Human Mutation

Lamont, Phillipa J PJ; Wallefeld, William W; Hilton-Jones, David D; Udd, Bjarne B; Argov, Zohar Z; Barboi, Alexandru C AC; Bonneman, Carsten C; Boycott, Kym M KM; Bushby, Kate K; Connolly, Anne M AM; Davies, Nicholas N; Beggs, Alan H AH; Cox, Gerald F GF; Dastgir, Jahannaz J; DeChene, Elizabeth T ET; Gooding, Rebecca R; Jungbluth, Heinz H; Muelas, Nuria N; Palmio, Johanna J; Penttilä, Sini S; Schmedding, Eric E; Suominen, Tiina T; Straub, Volker V; Staples, Christopher C; Van den Bergh, Peter Y K PY; Vilchez, Juan J JJ; Wagner, Kathryn R KR; Wheeler, Patricia G PG; Wraige, Elizabeth E; Laing, Nigel G NG

Publication Date: 2014-07

Variant appearance in text: MPD1: Leu1779Pro

PubMed Link: 24664454

Variant Present in the following documents:

• Main text

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