Neurogenetic Diseases

Disease AreaLabMolecular MedicineMuscular DystrophyNeurogenetic DiseasesNews & EventsResearchResearch Area

Changing view of Muscular Dystrophy

By | Disease Area, Lab, Molecular Medicine, Muscular Dystrophy, Neurogenetic Diseases, News & Events, Research, Research Area

Perkins PhD student, Dr Macarena Cabrera-Serrano, from the Laboratory for Neurogenetic Diseases, was lead author on the paper, Expanding the phenotype of GMPPB mutations. Although Congenital Muscular Dystrophy has several…

Disease AreaGenesLabMolecular MedicineMusclesNeurogenetic DiseasesNews & EventsResearchResearch Area

Perkins researchers decipher world-first muscle disorder cases

By | Disease Area, Genes, Lab, Molecular Medicine, Muscles, Neurogenetic Diseases, News & Events, Research, Research Area

During their investigation the multi-national team of researchers studied a muscle protein that is strongly influenced by calcium. The protein, known as tropomyosin-3 (TPM3), is vital for skeletal muscle development…