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Published in 2024 at "Movement Disorders"
DOI: 10.1002/mds.30057
Abstract: The pentanucleotide (TTTCA) repeat expansion (exp) insertion, along with the accompanying (TTTTA)exp, causes familial cortical myoclonic tremor with epilepsy (FCMTE). The genotype–phenotype correlations and intergenerational instabilities related to (TTTCA)exp and (TTTTA)exp are still unclear.
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Keywords:
genotype phenotype;
exp drives;
phenotype correlation;
tttca exp ... See more keywords