Mild-cerebellar ataxia due to impaired mitochondrial function caused by the MSTO1 variations

BackgroundMSTO1 encodes a regulator of mitochondrial fusion. Mutations in MSTO1 are linked to a rare mitochondrial disorder characterized by early-onset myopathy and cerebellar ataxia, with 31 cases reported globally to date, which underscores its exceptional rarity.MethodsWe conducted comprehensive...

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Hlavní autoři:	Bin Wu, Jingwei Lv, Tong Shen, Bing Wen, Tan Wang
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Frontiers Media S.A. 2026-04-01
Edice:	Frontiers in Neuroscience
Témata:	cerebellar ataxia cerebellar atrophy mitochondrial fusion MSTO1 MSTO1-related mitochondrial disorders
On-line přístup:	https://www.frontiersin.org/articles/10.3389/fnins.2026.1775132/full
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