Associated Papers
Novel compound heterozygous mutations in the TTN gene: elongation and truncation variants causing limb-girdle muscular dystrophy type 2J in a Han Chinese family.
Wang G et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2022
A novel mutation in TTN gene in a Saudi patient with bilateral facial weakness and scapular winging.
Algahtani H et al.
Intractable & Rare Diseases Research, 2019
Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal Titinopathy.
Evilä A et al.
Molecular Neurobiology, 2017
Increasing Role of Titin Mutations in Neuromuscular Disorders.
Savarese M et al.
Journal of Neuromuscular Diseases, 2016
CAPN3-mediated processing of C-terminal titin replaced by pathological cleavage in titinopathy.
Charton K et al.
Human Molecular Genetics, 2015
Atypical phenotypes in titinopathies explained by second titin mutations.
Evilä A et al.
Annals of Neurology, 2014
Exome sequencing identifies a novel TTN mutation in a family with hereditary myopathy with early respiratory failure.
Izumi R et al.
Journal of Human Genetics, 2013
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