Ann E. Davidson

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: A family with dominantly inherited congenital myopathy characterized by distal weakness and biopsy changes that included core-like areas and increased internalized nuclei is identified and a CCDC78 mutation associated with a unique myopathy with prominent internal nuclei and atypical cores is identified.

TL;DR: This work identified Pik3c2b as a genetic modifier of Mtm1 mutation and demonstrated that PIK3C2B inhibition is a potential treatment strategy for MTM, and set the groundwork for similar reciprocal inhibition approaches for treating other PIP metabolic disorders.

TL;DR: It is demonstrated that monoamine agonists can prevent disease in a vertebrate model of DMD, and an attractive target pathway for therapy development is identified.

TL;DR: The identification of a novel β-tropomyosin mutation, two clinical-histopathological phenotypes not previously associated with β- Tropomyos in and pathogenic data from the first animal model of β- tropomyosIn-related myopathies are described.