Article
STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility.
Human mutation - 1 Dec 2018
Zaharieva Irina T, Sarkozy Anna, Munot Pinki, Manzur Adnan, O'Grady Gina, Rendu John, Malfatti Eduardo, Amthor Helge, Servais Laurent, Urtizberea J Andoni, Neto Osorio Abath, Zanoteli Edmar, Donkervoort Sandra, Taylor Juliet, Dixon Joanne, Poke Gemma, Foley A Reghan, Holmes Chris, Williams Glyn, Holder Muriel, Yum Sabrina, Medne Livija, Quijano-Roy Susana, Romero Norma B, Fauré Julien, Feng Lucy, Bastaki Laila, Davis Mark R, Phadke Rahul, Sewry Caroline A, Bönnemann Carsten G, Jungbluth Heinz, Bachmann Christoph, Treves Susan, Muntoni Francesco
Abstract excerpt
SH3 and cysteine-rich domain-containing protein 3 (STAC3) is an essential component of the skeletal muscle excitation-contraction coupling (ECC) machinery, though its role and function are not yet completely understood. Here, we report 18 patients carrying a homozygous p.(Trp284Ser) STAC3 variant in addition to a patient compound heterozygous for the p.(Trp284Ser) and a novel splice site change (c.997-1G > T)....
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