HINT1 founder mutation causing axonal neuropathy with neuromyotonia in South America: A case report
Abstract Background Recessive loss‐of‐function mutations in HINT1 are associated with predominantly motor axonal peripheral neuropathy with neuromyotonia. Twenty‐four distinct pathogenic variants are reported all over the world, including four confirmed founder variations in Europe and Asia. The maj...
Gorde:
| Egile Nagusiak: | , , , , , , , |
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| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
Wiley
2021-10-01
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| Saila: | Molecular Genetics & Genomic Medicine |
| Gaiak: | |
| Sarrera elektronikoa: | https://doi.org/10.1002/mgg3.1783 |
| Etiketak: |
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