The novel B-crystallin (CRYAB) mutation p.D109G causes restrictive cardiomyopathy

Brodehl, A; Gaertner-Rommel, A; Klauke, B; Grewe, SA; Schirmer, I; Peterschroder, A; Faber, L; Vorgerd, M; Gummert, J; Anselmetti, D; Schulz, U; Paluszkiewicz, L; Milting, H

Brodehl, A; Milting, H (reprint author), Ruhr Univ Bochum, Dept Thorac & Cardiovasc Surg, Heart & Diabet Ctr NRW, Univ Hosp,Erich & Hanna Klessmann Inst Cardiovasc, Bad Oeynhausen, Germany.

HUMAN MUTATION, 2017; 38 (8): 947

Abstract

Restrictive cardiomyopathy (RCM) is a rare heart disease characterized by diastolic dysfunction and atrial enlargement. The genetic etiology of RCM is......

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