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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...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2022
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| Materias: | |
| 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 |