TY  - JOUR
AU  - Ávila-Polo, Rainiero
AU  - Malfatti, Edoardo
AU  - Lornage, Xavière
AU  - Cheraud, Chrystel
AU  - Nelson, Isabelle
AU  - Nectoux, Juliette
AU  - Böhm, Johann
AU  - Schneider, Raphaël
AU  - Hedberg-Oldfors, Carola
AU  - Eymard, Bruno
AU  - Monges, Soledad
AU  - Lubieniecki, Fabiana
AU  - Brochier, Guy
AU  - Thao Bui, Mai
AU  - Madelaine, Angeline
AU  - Labasse, Clémence
AU  - Beuvin, Maud
AU  - Lacène, Emmanuelle
AU  - Boland, Anne
AU  - Deleuze, Jean-François
AU  - Thompson, Julie
AU  - Richard, Isabelle
AU  - Taratuto, Ana Lía
AU  - Udd, Bjarne
AU  - Leturcq, France
AU  - Bonne, Gisèle
AU  - Oldfors, Anders
AU  - Laporte, Jocelyn
AU  - Romero, Norma Beatriz
PY  - 2018
DO  - 10.1093/jnen/nly095
UR  - http://hdl.handle.net/10668/13134
T2  - Journal of neuropathology and experimental neurology
AB  - Titin-related myopathies are heterogeneous clinical conditions associated with mutations in TTN. To define their histopathologic boundaries and try to overcome the difficulty in assessing the pathogenic role of TTN variants, we performed a thorough...
LA  - en
KW  - Adolescent
KW  - Adult
KW  - Child
KW  - Child, Preschool
KW  - Connectin
KW  - Female
KW  - Humans
KW  - Infant
KW  - Infant, Newborn
KW  - Male
KW  - Middle Aged
KW  - Muscle, Skeletal
KW  - Muscular Diseases
KW  - Retrospective Studies
KW  - Sarcomeres
KW  - Young Adult
TI  - Loss of Sarcomeric Scaffolding as a Common Baseline Histopathologic Lesion in Titin-Related Myopathies.
TY  - research article
VL  - 77
ER  -