Ontology highlight
ABSTRACT:
SUBMITTER: Kim J
PROVIDER: S-EPMC7952453 | biostudies-literature | 2021
REPOSITORIES: biostudies-literature
Kim Jaewon J Lee Dong-Woo DW Jang Ja-Hyun JH Kim Myungshin M Yim Jisook J Jang Dae-Hyun DH
Frontiers in pediatrics 20210226
Herein, we present a rare case of co-occurring Duchenne muscular dystrophy (DMD) and frontometaphyseal dysplasia 1 (FMD1), two different X-linked diseases, in a 7-year-old boy. He presented with proximal muscle weakness and elevated creatine phosphokinase levels. A multiplex ligation-dependent probe amplification study of <i>DMD</i> revealed the <i>de novo</i> duplications of exons 2-37, thereby confirming the diagnosis of DMD. Initial evaluation revealed atypical features, such as facial dysmor ...[more]