Novel compound heterozygous mutations in a GNE myopathy with congenital thrombocytopenia: A case report and literature review

We reported a GNE myopathy with congenital thrombocytopenia on a young male patient. He presented with a 3‐year history of lower distal extremity weakness initially affecting his legs. The weakness slowly progressed to lower proximal legs and upper arms last 6 months. Whole‐exome sequencing revealed...

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Detalles Bibliográficos
Autores principales: Xu, Zhouwei, Xiang, Jingyan, Luan, Xinghua, Geng, Zhi, Cao, Li
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8978988/
https://www.ncbi.nlm.nih.gov/pubmed/35414913
http://dx.doi.org/10.1002/ccr3.5659

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8978988/
https://www.ncbi.nlm.nih.gov/pubmed/35414913
http://dx.doi.org/10.1002/ccr3.5659

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