Recessive TTN truncating mutations define novel forms of core myopathy with heart disease

Exome sequencing identifies titin mutations causing hereditary myopathy with early respiratory failure (HMERF) in families of diverse ethnic origins

(2013) Camilo Toro et al.   BMC Neurology

Hereditary myopathy with early respiratory failure associated with a mutation in A-band titin

(2012) Monica Ohlsson et al.   BRAIN

RBM20, a gene for hereditary cardiomyopathy, regulates titin splicing

(2012) Wei Guo et al.   NATURE MEDICINE

Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores

(2012) Steven E. Boyden et al.   NEUROGENETICS

Mutations in MYH7 cause Multi-minicore Disease (MmD) with variable cardiac involvement

(2012) T. Cullup et al.   NEUROMUSCULAR DISORDERS

Truncations of Titin Causing Dilated Cardiomyopathy

(2012) Daniel S. Herman et al.   NEW ENGLAND JOURNAL OF MEDICINE

Left ventricular non-compaction revisited: a distinct phenotype with genetic heterogeneity?

(2011) E. Oechslin et al.   EUROPEAN HEART JOURNAL

Core Myopathies

(2011) Heinz Jungbluth et al.   Seminars in Pediatric Neurology

The first Italian family with tibial muscular dystrophy caused by a novel titin mutation

(2009) Marzia Pollazzon et al.   JOURNAL OF NEUROLOGY

Nuclear localization of the titin Z1Z2Zr domain and role in regulating cell proliferation

(2008) Jie Qi et al.   AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY

Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD)

(2008) Peter Hackman et al.   NEUROMUSCULAR DISORDERS

Mechanoenzymatics of titin kinase

(2008) E. M. Puchner et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA