Whole exome sequencing identifies a novel homozygous MECR mutation in a Chinese patient with childhood-onset dystonia and basal ganglia abnormalities, without optic atrophy.
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DOI: 10.1016/j.mito.2020.12.014
Abstract: Childhood-onset dystonia with optic atrophy and basal ganglia abnormalities is an extremely rare autosomal recessive mitochondrial disease caused by biallelic mutations in MECR. Using whole-exome sequencing, we identified a novel homozygous MECR mutation (c.910G>T, p.Asp304Tyr)… read more here.
Keywords: onset dystonia; childhood onset; ganglia abnormalities; optic atrophy ... See more keywords