Article
In a cohort of 961 clinically suspected Duchenne muscular dystrophy patients, 105 were diagnosed to have other muscular dystrophies (OMDs), with LGMD2E (variant SGCB c.544A>C) being the most common.
Molecular genetics & genomic medicine - 1 Nov 2024
Karthikeyan Priya, Kumar Shalini H, Khanna-Gupta Arati, Bremadesam Raman Lakshmi
Abstract excerpt
BACKGROUND: Targeted next generation sequence analyses in a cohort of 961 previously described patients with clinically suspected Duchene muscular dystrophy (DMD) revealed that 145/961 (15%) had variants in genes associated with other muscular dystrophies (OMDs). METHODS: NGS was carried out in DMD negative patients after deletion/duplication analysis followed by WES for No variant cases. RESULTS: The majority of...
Topics
- Humans
- Male
- Muscular Dystrophy, Duchenne
- Female
- Child
- Sarcoglycans
- Muscular Dystrophies, Limb-Girdle
- Adolescent
- Child, Preschool
- Mutation
- Muscular Dystrophies
- Sarcoglycanopathies