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Poster: Effects of genetic variants on lower leg muscle fat fraction evaluated with MRI in Becker’s muscular dystrophy

The image shows four MRI scans of legs, labeled A, B, C, and D. Each scan is associated with a specific genetic variant: A. Del "45-47", B. Del "45-48", C. Del "49-51", and D. Del "48-51
Picture of Pratiksha Pranil Awale

Pratiksha Pranil Awale

MRI Analysis Reveals Impact of Genetic Variants on Muscle Fat in Becker Muscular Dystrophy

This poster, presented by Pratiksha Pranil Awale, BPth, MS, PhD candidate, at the 2025 MDA Clinical & Scientific Conference, investigated the relationship between genetic variants in Becker Muscular Dystrophy (BMD) and muscle fat fraction (FF) in lower leg muscles, measured using MRI. The research included 29 participants with BMD, both ambulatory and non-ambulatory, and analyzed their dominant leg. The study found that different genetic variants are associated with varying degrees of muscle involvement, with the deletion of exons 45-47 showing more severe effects. MRI-measured FF was identified as a valuable tool for evaluating these genetic variants, offering potential insights for therapeutic developments, particularly in exon-skipping approaches for Duchenne muscular dystrophy.

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Null.
I can’t say enough positive things about the entire team. Everyone has consistently gone out of their way to accommodate us & support us. We’ve been participating for so many years that our annual trips feel like we’re reuniting with our good friends.
WY
A person wearing black tight and colorful shoes with flower on it, playing the game hopscotch outside, with their left food on the number three and their right foot up in the air.
Null.
Very important if we can eliminate intrusive biopsies as a necessary requirement for clinical trial evaluation. MRIs are a much preferred “gold standard”.
KT
A person wearing black tight and colorful shoes with flower on it, playing the game hopscotch outside, with their left food on the number three and their right foot up in the air.
Null.
The study has been very exciting. Discovering new tools that can help in the development of more studies and clinical trials for Becker muscular dystrophy. I feel like people are beginning to recognize BMD now.
JV

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