Genetic therapies for inherited neuromuscular disorders

Inherited neuromuscular diseases. Translation from pathomechanisms to therapies.

Genetic databases: online catalogues of inherited disorders.

Current information on inherited disorders in domestic animals is available on the internet: Online Mendelian inheritance in animals (OMIA) and Mendelian inheritance in sheep (MIS) are the two major sources of information. OMIA was created (and is maintained) by workers at the University of Sydney. MIS has been compiled by the Committee on Genetic Nomenclature of Sheep and Goats (COGNOSAG), an ...

Inherited Neutrophil Disorders: Molecular Basis and New Therapies.

Recent advances in our understanding of the molecular basis of inherited neutrophil disorders and complementary studies in transgenic mouse models have provided new insights into the normal mechanisms regulating myelopoiesis and the functional responses of mature neutrophils. Neutrophil specific granule deficiency is a rare disorder of neutrophil function characterized by a lack of neutrophil s...

Clinical imaging in genetic neuromuscular disorders

Great technologic and clinical progress have been made in the last two decades in identifying genetic defects of several neuromuscular diseases, as Spinal Muscular Atrophy, genetic muscular dystrophies and other genetic myopathies. The diagnosis is usually challenging, due to great variability in genetic abnormalities and clinical phenotypes and the poor specificity of complementary analyses, i...

Guidelines for genetic testing of inherited cardiac disorders.

Inherited gene variants have been implicated increasingly in cardiac disorders but the clinical impact of these discoveries has been variable. For some disorders, such as familial hypertrophic cardiomyopathy, long QT syndrome, and familial hypercholesterolaemia, genetic testing has a high yield and has become an integral part of family management. For other disorders, including dilated cardiomy...