Currently, Duchenne muscular dystrophy (DMD) and the related condition Becker muscular
dystrophy (BMD) can be usually diagnosed using physical examination and genetic testing …

A nonsense mutation adds a premature stop signal that hinders any further translation of a
protein-coding gene, usually resulting in a null allele. To investigate the possible exceptions …

Dystrophinopathies are X-linked recessive muscle disorders caused by mutations in the
dystrophin (DMD) gene that include deletions, duplications, and point mutations. Correct …

Duchenne muscular dystrophy (DMD) is one of the most severe forms of inherited muscular
dystrophies. It is the most common hereditary neuromuscular disease and does not exhibit a …

Background Pathogenic missense variants in the dystrophin (DMD) gene are rarely reported
in dystrophinopathies. Most DMD missense variants are of uncertain significance and their …

Bioinformatics is a contemporary interdisciplinary area focused on analyzing the growing
number of genome sequences. Gene variants are differences in DNA sequences among …

Abstract Background Emery-Dreifuss Muscular Dystrophy (EDMD) is an uncommon genetic
disease among the group of muscular dystrophies. EDMD is clinically heterogeneous and …

Becker/Duchenne肌营养不良患儿临床表型与基因关联性预测分析- PMC Back to Top Skip to
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BACKGROUND: Duchenne muscular dystrophy is a neuromuscular disease caused by a
deficiency of dystrophin, which causes the skeletal and cardiac muscles to degenerate …

Background Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD)
are allelic disorders caused by mutations in the DMD gene. The full mutation spectrum of the …