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SIGMAR1 gene mutation causing Distal Hereditary Motor Neuropathy in a Portuguese family
SIGMAR1 gene encodes a non-opioid endoplasmic reticulum (ER) protein which is involved in a large diversity of cell functions and is expressed ubiquitously in both central and peripheral nervous systems. Alterations of its normal function may contribute to two different phenotypes: juvenile amyotrop...
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| Publicado no: | Acta Myol |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Pacini Editore srl
2018
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6060428/ https://ncbi.nlm.nih.gov/pubmed/30079398 |
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