Advances and limitations for the treatment of spinal muscular atrophy

Advances and limitations for the treatment of spinal muscular atrophy

Abstract Spinal muscular atrophy (5q-SMA; SMA), a genetic neuromuscular condition affecting spinal motor neurons, is caused by defects in both copies of the SMN1 gene that produces survival motor neuron (SMN) protein. The highly homologous SMN2 gene primarily expresses a rapidly degraded isoform of...

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Bibliographic Details
Main Authors: John W. Day, Kelly Howell, Amy Place, Kimberly Long, Jose Rossello, Nathalie Kertesz, George Nomikos
Format: Article
Language:English
Published: BMC 2022-11-01
Series:BMC Pediatrics
Subjects:
Spinal muscular atrophy
Survival motor neuron-1 gene
Survival motor neuron
Nusinersen
Onasemnogene abeparvovec-xioi
Risdiplam
Online Access:https://doi.org/10.1186/s12887-022-03671-x

Internet

https://doi.org/10.1186/s12887-022-03671-x

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