High frequency of new mutations in North Indian Duchenne/Becker muscular dystrophy patients

Clinical Genetics
S SinhaB Mittal

Abstract

Accurate carrier determination is an important aspect in providing prenatal diagnosis and genetic counselling to families with Duchenne/Becker muscular dystrophy patients. Using quantitative polymerase chain reaction, we have analyzed the carrier status of 31 mothers (5 familial and 23 sporadic) who have an affected son with known deletion in the dystrophin gene. Only four out of 23 mothers of sporadic cases turned out to be heterozygous for the deleted exons. The lower number of carrier mothers in sporadic cases suggests a higher frequency of new mutations in North Indian DMD@BMD patients.

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Citations

Jun 26, 2001·American Journal of Medical Genetics·S SrivastavaB Mittal
Apr 1, 2004·Indian Journal of Pediatrics·Monisha Mukherjee, Balraj Mittal
Nov 13, 2009·Indian Journal of Pediatrics·Jayasri BasakTapas Kumar Banerjee
Nov 19, 2013·Genetic Testing and Molecular Biomarkers·Cesárea Bermúdez-LópezMiguel Angel Alcántara-Ortigoza
Jul 7, 2017·Journal of Human Genetics·Janusz G ZimowskiJacek Zaremba
Jul 6, 2018·Orphanet Journal of Rare Diseases·Peipei MaYuying Zhao
Nov 25, 2014·Indian Journal of Pediatrics·Venkataraman Viswanathan
Apr 13, 2021·Journal of Neuromuscular Diseases·Divya NagabushanaAtchayaram Nalini

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