Article
Mutational spectrum and phenotypic variability of Duchenne muscular dystrophy and related disorders in a Bangladeshi population.
Scientific reports - 6 Dec 2023
Sarker Shaoli, Eshaque Tamannyat Binte, Soorajkumar Anjana, Nassir Nasna, Zehra Binte, Kanta Shayla Imam, Rahaman Md Atikur, Islam Amirul, Akter Shimu, Ali Mohammad Kawsar, Mim Rabeya Akter, Uddin K M Furkan, Chowdhury Mohammod Shah Jahan, Shams Nusrat, Baqui Md Abdul, Lim Elaine T, Akter Hosneara, Woodbury-Smith Marc, Uddin Mohammed
Abstract excerpt
Duchenne muscular dystrophy (DMD) is a severe rare neuromuscular disorder caused by mutations in the X-linked dystrophin gene. Several mutations have been identified, yet the full mutational spectrum, and their phenotypic consequences, will require genotyping across different populations. To this end, we undertook the first detailed genotype and phenotype characterization of DMD in the Bangladeshi population. We...
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