Search Results

1 - 10 of 20
Genetic Disorders
Duchenne muscular dystrophy is a rapidly progressive form of muscular dystrophy caused by a mutation in the DMD gene.
… duchenne muscular dystrophy (dmd) is a rapidly progressive form of muscular dystrophy caused by a mutation in the dmd gene. … …
Genetic Disorders
Myotonic dystrophy is an inherited type of muscular dystrophy that affects the muscles and other body systems.
… myotonic dystrophy is an inherited type of muscular dystrophy that … body systems. … myotonic dystrophy is an inherited type of muscular dystrophy that affects the muscles and other body …
Genetic Disorders
Spinal muscular atrophy is a group of inherited disorders that cause progressive muscle degeneration and weakness.
… spinal muscular atrophy is a group of inherited disorders that cause … progressive muscle degeneration and weakness. … spinal muscular atrophy is a group of inherited disorders that cause … genetics home reference: spinal muscular atrophy muscular dystrophy association - usa nord: spinal muscular atrophy …
Staff
Dr. Kenneth Fischbeck is an adjunct investigator in the Medical Genetics Branch at the National Human Genome Research Institute. ​
… kennedy's disease, and spinocerebellar ataxia), spinal muscular atrophy, charcot-marie-tooth disease, muscular dystrophy , hereditary motor neuron disease, and friedreich's …
Staff
Dr. Carsten Bonnemann is an adjunct investigator in the Medical Genetics Branch at the National Human Genome Research Institute. ​
… disease, including the congenital myopathies, congenital muscular dystrophies , and the often rapidly progressive … also looks at how these interactions are perturbed in muscular dystrophy and other muscle disorders. their overriding goal - …
For Patients and Families
A rare disease is generally considered to be a disease that affects fewer than 200,000 people in the United States at any given time.
… system (see: learning about huntington's disease ); and muscular dystrophies , which affect the muscles (see: learning about duchenne muscular dystrophy ). single genes are also responsible for some rare, …
For Patients and Families
Por lo general, se considera que una enfermedad es rara cuando afecta a menos de 200,000 personas en los Estados Unidos en cualquier momento dado.
… los músculos (consulte: aprendizaje sobre la distrofia muscular de duchenne ). hay genes individuales que también …
Fact Sheets
Genetic mapping offers evidence that a disease transmitted from parent to child is linked to one or more genes and clues about where a gene lies on a chromosome.
… inherited disorders such as cystic fibrosis and duchenne muscular dystrophy . genetic maps are also useful in guiding …
File
… Asn Ser lle STS Markers A Met Lys Arg A G C Development Muscular-dystrophy New strands Sequence-tagged Genome U Asp of yeast …
Genetic Disorders
Progeria is an extremely rare genetic disease of childhood characterized by dramatic, premature aging.
… other genetic disorders, including two rare forms of muscular dystrophy . in addition to its implications for diagnosis and …