A novel SBF1 missense mutation causes autosomal dominant Charcot–Marie–Tooth disease type 4B3
IntroductionWe present a case of autosomal dominant Charcot–Marie–Tooth disease type 4B3 (CMT4B3) in a family caused by a novel SBF1 missense mutation.MethodsTwo patients, a mother and daughter, were recruited from our hospital. Both exhibited early-onset symptoms, including distal muscle atrophy of...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Frontiers Media S.A.
2024-11-01
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| Series: | Frontiers in Neurology |
| Subjects: | |
| Online Access: | https://www.frontiersin.org/articles/10.3389/fneur.2024.1495711/full |