DMD-related muscular dystrophy in Cameroon: Clinical and genetic profiles.

ABSTRACT:

Background

Most of the previous studies on Duchenne Muscular Dystrophy (DMD) were conducted in Caucasian, Asian, and Arab populations. Therefore, little is known about the features of this disease in Africans. In this study, we aimed to determine the clinical characteristics of DMD, and the common mutations associated with this condition in a group of Cameroonian patients.

Methods

We recruited DMD patients and performed a general physical examination on each of them. Multiplex ligand-dependant probe amplification was carried out to investigate exon deletions and duplications in the DMD gene (OMIM: 300377) of patients and their mothers.

Results

A total of 17 male patients from 14 families were recruited, aged 14 ± 5.1 (8-23) years. The mean age at onset of symptoms was

SUBMITTER: Wonkam-Tingang E 

PROVIDER: S-EPMC7434738 | biostudies-literature | 2020 Aug

REPOSITORIES: biostudies-literature