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Article

Molecular anatomy of CTG expansion in myotonin protein kinase gene among myotonic dystrophy patients from eastern India.

Human mutation - 1 Oct 2000

Basu P, Gangopadhaya P K, Mukherjee S C, Das S K, Sinha K K, Bhattacharyya N P

Abstract excerpt

We have studied the CTG repeat sizes in the DMPK gene and six biallelic markers which are in complete linkage disequlibrium with Caucasian DM patients, to identify any common founder haplotype in 30 clinically diagnosed unrelated DM patients from eastern India. Our results revealed that in 27 patients (90%), CTG expansion took place on a DraIII(-) - HhaI(-) - Alu(+) - HinfI(+) - Fnu4H I(-) - TaqI(+) haplotype...

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Source

Identifiers

PMID: 11013451
DOI: 10.1002/1098-1004(200010)16:4<372::AID-HUMU13>3.0.CO;2-G

Genes

DMPK

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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