19 сент. 2024 г. · Spinal muscular atrophy (SMA) is characterized by muscle weakness and atrophy resulting from progressive degeneration and irreversible loss ... |
1 окт. 2018 г. · Spinal muscular atrophy is a genetic disorder characterized by weakness and wasting (atrophy ) in muscles used for movement (skeletal muscles). |
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder characterized by progressive proximal muscle weakness and atrophy affecting ... |
Background. Spinal muscular atrophy (SMA) is a neuromuscular disease inherited in an autosomal recessive manner. It is characterized by muscle weakness and ... |
Spinal muscular atrophy refers to a group of autosomal recessive neuromuscular disorders characterized by degeneration of the anterior horn cells of the spinal ... |
What are the genetic causes of SMA? ... The most common form of SMA (types 1-4) is caused by a defect (mutation) in the SMN1 gene on chromosome 5. (People have ... |
The most common mutation is homozygous disruption of SMN1 and causative genes implicate altered RNA processing, axonal transport, and protein degradation. |
15 июн. 2024 г. · Spinal muscular atrophy (SMA) is a fatal autosomal recessive disorder for which several treatment options, including a gene therapy, ... |
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