Spinal muscular atrophy

Summary Spinal muscular atrophy is an autosomal recessive neurodegenerative disease characterised by degeneration of spinal cord motor neurons, atrophy of skeletal muscles, and generalised weakness. It is caused by homozygous disruption of the survival motor neuron 1 ( SMN1 ) gene by deletion, conve...

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Veröffentlicht in:	The Lancet (British edition) 2008-06, Vol.371 (9630), p.2120-2133
Hauptverfasser:	Lunn, Mitchell R, BS, Wang, Ching H, Dr
Format:	Artikel
Sprache:	eng
Schlagworte:	Action Potentials Amines - therapeutic use Artificial chromosomes Biological and medical sciences Clinical outcomes Clinical trials Committees Cyclic AMP Response Element-Binding Protein - genetics Cyclohexanecarboxylic Acids - therapeutic use Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases Developmental stages Diseases of striated muscles. Neuromuscular diseases Electromyography gamma-Aminobutyric Acid - therapeutic use Gene Library General aspects Humans Internal Medicine International standards Medical sciences Medical technology Medical treatment Molecular Biology Mortality Muscles Muscular system Nerve Tissue Proteins - genetics Neurology Patients Phenylbutyrates - therapeutic use Randomized Controlled Trials as Topic RNA-Binding Proteins - genetics Severity of Illness Index SMN Complex Proteins Spinal Muscular Atrophies of Childhood - classification Spinal Muscular Atrophies of Childhood - genetics Spinal Muscular Atrophies of Childhood - physiopathology Survival of Motor Neuron 1 Protein
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