Article

Genotype–cognitive Phenotype Associations in Duchenne Muscular Dystrophy: The Role of Mutation Location and Ambulatory Status in a Pediatric Cohort

2026-07-15

Abstract excerpt

<title>Abstract</title> <p>Purpose Duchenne muscular dystrophy (DMD) is characterized by progressive motor decline as well as cognitive impairment and reduced quality of life. This study aimed to investigate the relationship between genotype, cognitive functioning, and quality of life in children with DMD. Methods This cross-sectional study included 37 boys aged 8–12 years with genetically confirmed DMD and del...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 0a0c70ea-a851-5b17-9265-ddf24850a1ed
DOI: 10.21203/rs.3.rs-10132962/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Genotype–cognitive Phenotype Associations in Duchenne Muscular Dystrophy: The Role of Mutation Location and Ambulatory Status in a Pediatric CohortDOI 10.21203/rs.3.rs-10132962/v1Read

Intellectual Ability in the Duchenne Muscular Dystrophy and Dystrophin Gene Mutation LocationSemantic proximity Read

Uncovering Comorbid Psychopathology in Children With Duchenne Muscular Dystrophy: Insights From an Observational StudySemantic proximity Read

Brain Matters in Duchenne Muscular Dystrophy: DMD Mutation Sites and Their Association with Neurological Comorbidities Through Isoform Impairment.Semantic proximity Read

Dystrophin gene mutation location and the risk of cognitive impairment in Duchenne muscular dystrophy.Semantic proximity Read

Neuropsychological and Emotional-Behavioral Profiles in Pediatric Duchenne Muscular Dystrophy: A Single-Center Clinical StudySemantic proximity Read

The impact of genotype on outcomes in individuals with Duchenne muscular dystrophy: A systematic review.Semantic proximity Read

Population-Based Investigation of DMD Genotype and Neurodevelopmental Concerns in Duchenne Muscular Dystrophy.Semantic proximity Read

Cognitive and Neurobehavioral Profile in Boys With Duchenne Muscular Dystrophy.Semantic proximity Read

Characteristics of Disease Progression and Genetic Correlation in Ambulatory Iranian Boys With Duchenne Muscular DystrophySemantic proximity Read

Neurocognitive and autism spectrum profiles associated with dystrophin isoform disruption in childhood dystrophinopathies: insights from a Brazilian cohort.Semantic proximity Read

Diversity of Dystrophin Gene Mutations and Disease Progression in a Contemporary Cohort of Duchenne Muscular Dystrophy.Semantic proximity Read

Cognitive and emotional-behavioural outcomes of Turkish Duchenne muscular dystrophy population and its association with motor function.Semantic proximity Read