Adult spinal muscular atrophy: problems of early diagnosis
Background. Spinal muscular atrophy (SMA) associated with chromosome 5q is an autosomal recessive neuromuscular disease caused by a mutation in the SMN1 gene. Adult forms of SMA are relatively rarer and associated with significant diagnostic difficulties and pronounced delay in diagnosis. The availa...
Main Authors: | , |
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Format: | Article |
Language: | Russian |
Published: |
ABV-press
2022-12-01
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Series: | Нервно-мышечные болезни |
Subjects: | |
Online Access: | https://nmb.abvpress.ru/jour/article/view/507 |