Chintalaphani SR

ORCID: 0000-0002-8106-5011 · 1 paper in corpus

2026

Optical mapping reveals a higher level of large-scale structural variants in a family with paternally transmitted myotonic dystrophy and independent Parkinson's disease.

The Journal of Pathology ·doi:10.1002/path.70084

Myotonic dystrophy type 1 (DM1) is a clinically challenging multisystem neuromuscular hereditary disorder, with generational increase in severity and earlier age at onset. It is caused by an unstable cytosine-thymine-guanine repeat expansio…