Spinal muscular atrophy with severe scoliosis: a case report
Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disease that causes general weakness, muscle atrophy, and poor muscle movement. This condition is due to a homozygous disruption of the survival motor neuron (SMN) 1 survival gene due to deletion, conversion, or mutation.1
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| Autori principali: | , , |
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| Natura: | Libro |
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Indonesian Pediatric Society Publishing House,
2023-08-01T00:00:00Z.
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| Riassunto: | Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disease that causes general weakness, muscle atrophy, and poor muscle movement. This condition is due to a homozygous disruption of the survival motor neuron (SMN) 1 survival gene due to deletion, conversion, or mutation.1 |
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| Descrizione del documento: | 0030-9311 2338-476X 10.14238/pi63.4.2023.315-20 |