Altered mitochondrial function in fibroblast cell lines derived from disease carriers of spinal muscular atrophy

Abstract Background Spinal muscular atrophy (SMA) is an autosomal recessive childhood-onset neuromuscular disease with a carrier frequency of ~1:50. Mitochondrial abnormalities are widespread in patients with SMA. Disease carriers for SMA (i.e., the parents of patients with SMA) are viewed as asympt...

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Bibliographic Details

Published in:	Communications Medicine
Main Authors:	Rachel James, Kiterie M. E. Faller, Ewout J. N. Groen, Brunhilde Wirth, Thomas H. Gillingwater
Format:	Article
Language:	English
Published:	Nature Portfolio 2024-05-01
Online Access:	https://doi.org/10.1038/s43856-024-00515-w