The clinical and genetic profiles of spinal muscular atrophy with respiratory distress type 1 and identification of a novel mutation in IGHMBP2 in China
BackgroundSpinal muscular atrophy with respiratory distress type 1 (SMARD1, OMIM #604320) is a rare autosomal recessive hereditary degenerative motor neuron disease caused by mutations in IGHMBP2. There is a lack of data from China. This study investigated the clinical characteristics and genetic ro...
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| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Frontiers Media S.A.
2025-07-01
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| Series: | Frontiers in Genetics |
| Subjects: | |
| Online Access: | https://www.frontiersin.org/articles/10.3389/fgene.2025.1594265/full |
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