Article

Mutation analysis of 419 family and prenatal diagnosis of 339 cases of spinal muscular atrophy in China

2020-05-29

Abstract excerpt

<title>Abstract</title> <p><bold>Background </bold>Spinal muscular atrophy (SMA) is a common and lethal autosomal recessive neurodegenerative disease caused by mutations in the survival motor neuron 1 (SMN1) gene. At present, gene therapy medicine for SMA, <italic>i.e.</italic>, Spinraza (Nusinersen), has been approved by the FDA, bringing hope to SMA patients and families. Accurate diagnosis is essential for tre...

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Literature Corpus work: 4ce2e354-a392-54e4-906a-f649d7af3437
DOI: 10.21203/rs.2.24770/v3

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