Identification of Biallelic dystrophin gene variants during maternal carrier testing for Becker muscular dystrophy and review of the DMD exon 49-51 deletion phenotype.

Elizabeth A Ulm,Chinmayee B Nagaraj,Cuixia Tian,Teresa A Smolarek

Molecular genetics & genomic medicine（2023）

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摘要

The DMD exon 49-51 deletion appears to cause a variable but generally mild BMD phenotype. Its relatively frequent detection by CMA suggests it may be underdiagnosed.

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关键词

Duchenne muscular dystrophy,X-Linked dilated cardiomyopathy,genetic diseases,neuromuscular diseases

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