Andoni Urtizberea

TL;DR: A marked inter‐ and intra‐familial variability in the clinical expression of LMNA mutations exists, ranging from patients expressing the full clinical picture of EDMD to those characterized only by cardiac involvement, which points toward a significant role of possible modifier genes in the course of this disease.

TL;DR: The difficult task of revisiting the definition of LGMD and to propose a new classification system for LGMD sub-types that will be most useful to patients, researchers and clinicians and comply with classification systems established by OMIM (Online Mendelian Inheritance in Man), Orphanet and ICD (International Classification of Diseases)-11.

TL;DR: The aims of the workshop were to define the need for clinical trials in DMD and develop a protocol for such trials, relating primarily to the use of steroids (prednisolone, prednisone and deflazacort), and to confirm that long-term follow up of cohorts of patients treated under one or other of these regimes shows that this increase in strength is mirrored by improvement in function.

TL;DR: Proof of principle that the nuclear matrix is crucial for normal skeletal muscle structure and function is established and VCPDM is put on the growing list of monogenic disorders associated with the nuclear proteome.

TL;DR: Downregulation of the GFPT1 ortholog gfpt1 in zebrafish embryos altered muscle fiber morphology and impaired neuromuscular junction development, providing further impetus to study the glycobiology of NMJ and synapses in general.