Edoardo Malfatti

TL;DR: Yeast and mammalian cell systems proved the pathogenic role of the mutant alleles by functional complementation in vivo, and genetic investigation involving patients with defective mitochondrial translation led to the discovery of novel mutations in the mitochondrial elongation factor G1 (EFG1) in one affected baby and, for the first time, in the mitochondria elongation factors Tu (EFTu) in another one.

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: Tight correlation between mutation load and decrease in CI activity was observed in each of the three mutant cybrid lines, supporting the pathogenic role of the novel mutations.

TL;DR: It is concluded that muscle expression of histone deacetylase 4 may be a key factor for muscle reinnervation and disease progression in patients with amyotrophic lateral sclerosis.

TL;DR: The data provide the evidence that specific BIN1 mutations can cause either recessive or dominant centronuclear myopathy and that both disorders involve different pathomechanisms.