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The impact of genotype on age at loss of ambulation in individuals with Duchenne muscular dystrophy treated with corticosteroids: A single-center study of 555 patients.

Muscle & nerve - 1 Nov 2024

Zygmunt Alexander, Wong Brenda, Moon David, Horn Paul, Rathbun Richard, Lambert Joshua, Bange Jean, Rybalsky Irina, Reebals Lisa, Tian Cuixia

Abstract excerpt

INTRODUCTION/AIMS: Studies have demonstrated that certain genotypes in Duchenne muscular dystrophy (DMD) have milder or more severe phenotypes. These studies included individuals treated and not treated with corticosteroids and multiple sites with potentially varying standards of care. We aimed to assess genotype-phenotype correlations for age at loss of ambulation (LoA) in a large cohort of individuals with DMD...

Topics

Humans
Muscular Dystrophy, Duchenne
Male
Child
Retrospective Studies
Adolescent
Genotype
Child, Preschool
Adrenal Cortex Hormones
Young Adult

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Pregnenediones

Prednisone

Female

Adult

Walking

Exons

Genetic Association Studies

Cohort Studies

Source

Identifiers

PMID: 39291879
DOI: 10.1002/mus.28255

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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