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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Ann Clin Transl Neurol
Päätekijät: 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
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: John Wiley and Sons Inc. 2016
Aiheet:
Research Papers
Linkit: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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