Case Report: Co-occurrence of Duchenne Muscular Dystrophy and Frontometaphyseal Dysplasia 1

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...

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Autors principals:	Jaewon Kim, Dong-Woo Lee, Ja-Hyun Jang, Myungshin Kim, Jisook Yim, Dae-Hyun Jang
Format:	Artigo
Idioma:	Inglês
Publicat:	Frontiers Media S.A. 2021-02-01
Col·lecció:	Frontiers in Pediatrics
Matèries:	Duchenne muscular dystrophy frontometaphyseal dysplasia 1 X-linked genetic diseases FLNA gene mutation genetic disease
Accés en línia:	https://www.frontiersin.org/articles/10.3389/fped.2021.628190/full
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