Dp71 and intellectual disability in Indonesian patients with Duchenne muscular dystrophy.

ABSTRACT:

Introductions

Duchenne muscular dystrophy (DMD) is an X-linked recessive progressive muscular disease marked by developmental delays due to mutations in the DMD gene, which encodes dystrophin. Brain comorbidity adds to the burden of limited mobility and significantly impacts patients' quality of life and their family. The changes of expression of dystrophin isoforms in the brain due to DMD gene mutations are thought to be related to the cognitive and neurobehavior profiles of DMD.

Objectives

This cross-sectional study aimed to characterize cognitive and neurodevelopmental profiles of patients with DMD and to explore underlying genotype-phenotype associations.

Methods

Patients with DMD aged 5-18 years from Dr Sardjito Hospital and Universitas Gadjah Mada Academic Hospi

SUBMITTER: Iskandar K 

PROVIDER: S-EPMC9621454 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature