Titre : | Increasing role of titin mutations in neuromuscular disorders |
Revue : | Journal of Neuromuscular Diseases, 3, 3 |
Auteurs : | Savarese M, Auteur ; Sarparanta J ; Vihola A ; Udd B ; Hackmann P |
Type de document : | Article |
Année de publication : | 2016 |
Pages : | p 293 |
Langues: | Anglais |
Mots-clés: | Childhood-juvenile onset Emery-Dreifuss-like phenotype without cardiomyopathy;Congenital centronuclear myopathy (CNM);Early-onset myopathy with fatal cardiomyopathy (EOMFC);Hereditary myopathy with early respiratory failure (HMERF);Late-onset autosomal dominant tibial muscular dystrophy (TMD);Limb-girdle muscular dystrophy (LGMD);Multi-minicore disease with heart disease (MmDHD);TTN;neuromuscular disorders;titin; |
Pubmed / DOI : | Pubmed : 27854229 / DOI : 10.3233/JND-160158 |