Insights into diagnostic difficulties in spinal muscular atrophy: a Case Report series

Insights into diagnostic difficulties in spinal muscular atrophy: a Case Report series

Spinal muscular atrophy (SMA) is a progressive neuromuscular disorder caused by mutations in SMN1, with disease severity influenced by the number of SMN2 copies. Although SMA is one of the most common autosomal recessive disorders, molecular diagnosis still presents challenges. We present a case ser...

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Bibliographic Details
Main Authors: Kakha Bregvadze, Luka Abashishvili, Nana Nino Tatishvili, Teona Shatirishvili, Ana Bedoshvili, Gocha Chikvinidze, Arndt Rolfs, Volha Skrahina, Tinatin Tkemaladze
Format: Article
Language:English
Published: Frontiers Media S.A. 2024-12-01
Series:Frontiers in Genetics
Subjects:
spinal muscular atrophy
SMA
SMN1
SMN2
Down syndrome
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2024.1502444/full
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https://www.frontiersin.org/articles/10.3389/fgene.2024.1502444/full

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