Sentences with phrase «inherited muscular disease»
Centronuclear Myopathy (CNM) in Labrador Retrievers is a recessively inherited muscular disease.
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Family medical history (for both you and your partner), including any cognitive impairments; birth defects; early infant loss; deformities; or any inherited diseases, such as Tay - Sachs disease, hemophilia, muscular dystrophy, or cystic fibrosis
Whilst there I worked on a research project studying the genetics of inherited deafness and also performed routine genetic screening and prenatal diagnoses for diseases such as Duchenne muscular dystrophy and cystic fibrosis.
Inheriting a single X chromosome exposes men to a host of X-linked diseases, such as hemophilia or Duchenne muscular dystrophy, and researchers hope to use the new data to understand more fully the role of genes in other X-linked conditions.
Fresh insights into how our cells control muscle development could aid understanding of muscular dystrophy and other inherited diseases.
Still the study is «an important first step to show that manipulating AMPK - nNOS signaling at least has the potential to help muscle function in muscular dystrophy,» says Michele whose lab at the University of Michigan Cardiovascular Research Center focuses on inherited forms of skeletal and cardiac diseases.
This will help to better understand both inherited and acquired muscular diseases, and aid therapy development,» sums up Kristina Djinović - Carugo.
Duchenne muscular dystrophy is an inherited, incurable disease that destroys muscles and eventually proves fatal as respiratory and heart muscles are affected.
Myopathies are frequent diseases and can be caused by inherited genetic defects (e.g., muscular dystrophies), or by endocrine inflammatory (e.g., polymyositis), and metabolic disorder.
This year's ASENT meeting featured a symposium on spinal muscular atrophy (SMA), an inherited motor neuron disease that is the second most common autosomal recessive disorder of children and the most common genetic cause of death in infancy, as a case study in neurology orphan drug development.
Four years ago, researchers identified a genetic mutation associated with spinal muscular atrophy (SMA), an inherited neuromuscular disease that is the most common genetic cause of infant mortality...
Chronic and progressive degeneration of muscular and ligamentous parts of the body due to any non infectious and congenital (inherited) disease can cause weakness in a dog's strength, where the mild stretching and pulling can lead to a sprain.
See GENETICS: Inherited Neurological Disorders for the following disorders: Ataxia (Cerebella Abiotrophy) Canine Neuronal Lipofuscinosis (CCL & NCL) Cerebellar Hypoplasia Congenital Myasthenia Gravis Deafness Degenerative Myelopathy (DM) Epilepsy - Hydrocephalus - Intervertebral Disk Disease Myasthenia Gravis Myopathy (X-Linked Muscular Dystrophy) Spina Bifida
Because dogs get about 220 of the same inherited diseases and disorders that humans do — including Alzheimer's, muscular dystrophy, hemophilia and retinal degeneration — medical researchers are able to study the underlying genetic defects and, through dogs, seek cures.
Characterization of genetic mutations, genetic testing and development of gene - based therapies for muscular dystrophies and inherited metabolic brain diseases similar to Tay - Sachs disease.