Indentification of novel MSTO1 compound heterozygous mutations in a Chinese family with recessive cerebellar atrophy and ataxia
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DOI: 10.3389/fneur.2022.988519
Abstract: Misato mitochondrial distribution and morphology regulator 1 (MSTO1) is a nuclear-encoded cytoplasmic protein involved in mitochondrial fusion and distribution. Its disruption causes an extremely rare mitochondrial disorder characterized by early-onset myopathy and cerebellar ataxia. The… read more here.
Keywords: cerebellar atrophy; compound heterozygous; heterozygous mutations; msto1 ... See more keywords