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...

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Bibliographic Details
Main Authors: Yu. A. Shpilyukova, S. N. Illarioshkin
Format: Article
Language:Russian
Published: ABV-press 2022-12-01
Series:Нервно-мышечные болезни
Subjects:
Online Access:https://nmb.abvpress.ru/jour/article/view/507