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...

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Detalles Bibliográficos
Autores principales: Carter, Melissa T., McMillan, Hugh J., Tomin, Andriy, Weiss, Norbert
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Taylor & Francis 2019
Materias:
Research Paper
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

Internet

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

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