Biallelic SCN10A mutations in neuromuscular disease and epileptic encephalopathy

OBJECTIVES: Two consanguineous families, one of Sudanese ethnicity presenting progressive neuromuscular disease, severe cognitive impairment, muscle weakness, upper motor neuron lesion, anhydrosis, facial dysmorphism, and recurrent seizures and the other of Egyptian ethnicity presenting with neonata...

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Detalhes bibliográficos
Publicado no:Ann Clin Transl Neurol
Main Authors: Kambouris, Marios, Thevenon, Julien, Soldatos, Ariane, Cox, Allison, Stephen, Joshi, Ben‐Omran, Tawfeg, Al‐Sarraj, Yasser, Boulos, Hala, Bone, William, Mullikin, James C., Masurel‐Paulet, Alice, St‐Onge, Judith, Dufford, Yannis, Chantegret, Corrine, Thauvin‐Robinet, Christel, Al‐Alami, Jamil, Faivre, Laurence, Riviere, Jean Baptiste, Gahl, William A., Bassuk, Alexander G., Malicdan, May Christine V., El‐Shanti, Hatem
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2016
Assuntos:
Research Papers
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5221474/
https://ncbi.nlm.nih.gov/pubmed/28078312
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/acn3.372
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