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Compound heterozygous CACNA1H mutations associated with severe congenital amyotrophy
Neuromuscular disorders encompass a wide range of conditions often associated with a genetic component. In the present study, we report a patient with severe infantile-onset amyotrophy in whom two compound heterozygous variants in the gene CACNA1H encoding for Ca(v)3.2 T-type calcium channels were i...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Taylor & Francis
2019
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6527065/ https://www.ncbi.nlm.nih.gov/pubmed/31070086 http://dx.doi.org/10.1080/19336950.2019.1614415 |