Ontology highlight
ABSTRACT:
SUBMITTER: Wu B
PROVIDER: S-EPMC5364719 | biostudies-literature | 2017
REPOSITORIES: biostudies-literature
Molecular cytogenetics 20170323
<h4>Background</h4>Duchenne muscular dystrophy (DMD) is an X-linked recessive muscle-wasting disease caused by a mutation in the <i>DMD</i> gene. The aim of this study was to identify a de novo mutation of the <i>DMD</i> gene in the family of a 9-month-old Chinese male patient, as well as to describe the phenotypic characteristics of this patient.<h4>Results</h4>The patient was suspected to suffer from DMD according to physical examination, biochemical analyses, and electromyogram. We identified ...[more]