A homozygous TTN gene variant associated with lethal congenital contracture syndrome

Chervinsky, E; Khayat, M; Soltsman, S; Habiballa, H; Elpeleg, O; Shalev, S

Shalev, S (reprint author), Emek Med Ctr, Genet Inst, IL-18101 Afula, Israel.; Shalev, S (reprint author), Technion Israel Inst Technol, Rappaport Fac Med, Haifa, Israel.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2018; 176 (4): 1001

Abstract

Pathogenic variants in the TTN gene have been reported to cause various cardiomyopathies and a range of skeletal muscle diseases, collectively known a......

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