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In patients with myotonic dystrophy type 1, CTG repeat lengths did not correlate with age, disease duration, muscular impairment rating scale, motor performance or BDI scores.
Three polymorphisms have been identified at this position of exon 12 and coded as allele 1, 3 and 6 [ 20], i.e., allele 1: CTG AAAAATAC (deletion), allele 3: CTG AAGAAATAC and allele 6: CTG AAAAAATAC.
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6, 7 CTG tracing was defined as normal, intermediary or abnormal according to the International Federation of Gynecology and Obstetrics (FIGO) classifications of CTG recordings.
However the majority of the CTG tracts contained ∼300 380 repeats with a significant fraction showing expansions that occurred primarily to lengths of ∼700 730 and ∼800 CTG repeats.
Cho, D.H. et al. Antisense transcription and heterochromatin at the DM1 CTG repeats are constrained by CTCF.
The 18 CTG codons in Cre were mutagenized in a similar manner and the system was used to delete XYL2.
Moseley, M.L. et al. SCA8 CTG repeat: en masse contractions in sperm and intergenerational sequence changes may play a role in reduced penetrance.
The SCA8 CTG expansion was isolated from a single individual with ataxia3,4 and subsequently found in additional families with ataxia4,5,6,7,8,9, including the seven-generation MN-A familod(lod 6.8, θ = 0.0 4,10.0 4
Taken together, these data demonstrate that the SCA8 CTG expansion alters the cerebellar cortical circuitry and that molecular-layer GABAergic inhibition is not functioning normally in both high-copy and low-copy BAC expansion lines.
We then processed two samples with expanded allele from the DM1 individual (NA05164 and GM03756A), which harbor expanded alleles determined to be 377 and 450 CTG repeats by conventional diagnostic methods, respectively34.
The alpha I/50a defect was associated in different individuals with two separate single base changes in exon 6: CTG to CCG (leucine to proline) encoding residue 254, and TCC to CCC (serine to proline) encoding residue 255.
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