William R. Telfer

TL;DR: It is demonstrated that mutations in the gene encoding L MOD3 underlie congenital myopathy and demonstrate that LMOD3 is essential for the organization of sarcomeric thin filaments in skeletal muscle.

TL;DR: Zebrafish models of the collagen VI myopathies are generated, successfully generating the first vertebrate model matching the clinical severity of UCMD and it is demonstrated that CsA provides phenotypic improvement, thus corroborating data from knockout mice supporting the use of mitochondrial permeability transition pore modifiers as therapeutics in patients and providing proof of principle for the utility of the zebrafish as a powerful preclinical model.

TL;DR: Neb zebrafish mirror the genetic, clinical and pathological aspects of nemaline myopathy due to NEB mutation, and thus are an excellent model for future therapy development for this devastating disorder.

TL;DR: Exposure to the common DNM2-S619L mutation in zebrafish led to the accumulation of aberrant vesicular structures and to defective excitation-contraction coupling, suggesting that DNM1 causes disease, in part, by interfering with membrane tubulation.