DOI:
10.1055/s-00000041
Neuropediatrics
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References
Heimer G, Kerätär JM, Riley LG. , et al; University of Washington Center for Mendelian Genomics.
MECR mutations cause childhood-onset dystonia and optic atrophy, a mitochondrial fatty acid synthesis disorder.
Am J Hum Genet 2016;
99 (06) 1229-1244
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