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

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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Bibliographic Details
Main Authors: Jaewon Kim, Dong-Woo Lee, Ja-Hyun Jang, Myungshin Kim, Jisook Yim, Dae-Hyun Jang
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-02-01
Series:Frontiers in Pediatrics
Subjects:
Duchenne muscular dystrophy
frontometaphyseal dysplasia 1
X-linked genetic diseases
FLNA gene mutation
genetic disease
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2021.628190/full

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https://www.frontiersin.org/articles/10.3389/fped.2021.628190/full

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