STAC3variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility

Volume: 39, Issue: 12, Pages: 1980 - 1994
Published: Oct 11, 2018
Abstract
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). Clinical severity ranged from...
Paper Details
Title
STAC3variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility
Published Date
Oct 11, 2018
Volume
39
Issue
12
Pages
1980 - 1994
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