Clinical characterizations of three adults with genetically confirmed spinal muscular atrophy: a case series

Clinical characterizations of three adults with genetically confirmed spinal muscular atrophy: a case series

Abstract Background Spinal muscular atrophy is a recessively inherited autosomal neuromuscular disorder, with characteristic progressive muscle weakness. Most spinal muscular atrophy cases clinically manifest during infancy or childhood, although it may first manifest in adulthood. Although spinal m...

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Bibliographic Details
Main Authors: Cempaka Thursina Srie Setyaningrum, Indra Sari Kusuma Harahap, Dian Kesumapramudya Nurputra, Mawaddah Ar Rochmah, Ahmad Hamim Sadewa, Giga Hasabi Alkarani, Nur Imma Fatimah Harahap
Format: Article
Language:English
Published: BMC 2022-11-01
Series:Journal of Medical Case Reports
Subjects:
Spinal muscular atrophy
Clinical characterization
Diagnosis
Indonesia
Online Access:https://doi.org/10.1186/s13256-022-03633-y

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