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http://dx.doi.org/10.1016/j.xjtc.2022.04.001 | DOI Listing |
N Engl J Med
January 2025
National Cancer Center Hospital, Tokyo, Japan
Pediatrics
January 2025
Division of Pediatric Health Services Research, Department of Pediatrics, Boston Medical Center, Boston, Massachusetts.
Neurol Genet
February 2025
Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Kodaira.
Background And Objectives: Becker muscular dystrophy (BMD) is an allelic disorder of Duchenne muscular dystrophy (DMD) in which pathogenic variants in cause progressive worsening of motor dysfunction, muscle weakness and atrophy, and death due to respiratory and cardiac failure. BMD often has in-frame deletions that preserve the amino acid reading frame, but there are some cases with microvariants or duplications. In recent years, the importance of therapeutic development and care for BMD has been emphasized.
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