A novel de novo mutation in MYH7 gene in a patient with early onset muscular weakness and severe kyphoscoliosis: A case report

INTRODUCTION: Various phenotypes have been identified for MYH7 gene mutation-related myopathy. Here, we describe a patient with severe muscular weakness and skeletal deformity with de novo heterozygous MYH7 gene mutation. PATIENT CONCERNS: A 33-year-old woman presented with early onset of muscular w...

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Detalles Bibliográficos
Autores principales: Ko, Jin Young, Lee, Minyong, Jang, Ja-Hyun, Jang, Dae-Hyun, Ryu, Ju Seok
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2019
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6641756/
https://www.ncbi.nlm.nih.gov/pubmed/31305444
http://dx.doi.org/10.1097/MD.0000000000016389

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6641756/
https://www.ncbi.nlm.nih.gov/pubmed/31305444
http://dx.doi.org/10.1097/MD.0000000000016389

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