Pathology provides clarity in the next-generation sequencing era

Reply: Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain

(2014) Gerald Pfeffer et al.   BRAIN

Reply: Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain

(2014) Stephan Lange et al.   BRAIN

A Rising Titan:TTNReview and Mutation Update

(2014) Claire Chauveau et al.   HUMAN MUTATION

Necklace cytoplasmic bodies in hereditary myopathy with early respiratory failure

(2014) Akinori Uruha et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Hereditary myopathy with early respiratory failure is associated with misfolding of the titin fibronectin III 119 subdomain

(2014) Carola Hedberg et al.   NEUROMUSCULAR DISORDERS

Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain

(2013) Carola Hedberg et al.   BRAIN

Reply: Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain

(2013) Gerald Pfeffer et al.   BRAIN

Myofibrillar myopathies

(2013) Montse Olivé et al.   CURRENT OPINION IN NEUROLOGY

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

(2013) C. Chauveau et al.   HUMAN MOLECULAR GENETICS

Hereditary myopathy with early respiratory failure: occurrence in various populations

(2013) J. Palmio et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure

(2013) G. Pfeffer et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy

(2013) O. Ceyhan-Birsoy et al.   NEUROLOGY

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

(2012) Monica Ohlsson et al.   BRAIN

Titin mutation segregates with hereditary myopathy with early respiratory failure

(2012) Gerald Pfeffer et al.   BRAIN