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Neuromotor Synapses in Escobar Syndrome
The Escobar variant of multiple pterygium syndrome (OMIM #265000) is a rare, autosomal recessive disorder associated with mutations in the γ-subunit of the nicotinic acetylcholine receptor (CHRNG). CHRNG is expressed in fetal muscle during motor development and contributes to the formation of neurom...
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| Publicado no: | Am J Med Genet A |
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| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2013
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5600816/ https://ncbi.nlm.nih.gov/pubmed/24038971 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.36154 |
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