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of 4
pro vyhledávání: '"Jesús, Molano Mateos"'
Autor:
Carmen Palma, Milla, Carmen Prior, De Castro, Clara, Gómez-González, Paloma, Martínez-Montero, Samuel I, Pascual Pascual, Jesús, Molano Mateos
Publikováno v:
Journal of genetics. 98
Myotonia congenita (MC) is a Mendelian inherited genetic disease caused by the mutations in the
Autor:
Jesús Molano Mateos, Lucía Pérez de Ayala, Carlos Rodriguez-Antolin, Samuel I. Pascual, Carmen Palma, Clara Gómez-González, C. Prior, Paloma Martínez-Montero
Publikováno v:
Neuromuscular disorders : NMD. 27(12)
Paramyotonia congenita (OMIM 168300) is a non-dystrophic myopathy caused by mutations in the SCN4A gene that sometimes can be confused with myotonia congenita. Another disease also caused by mutations in the gene SCN4A is called myotonia aggravated b
Autor:
Jesús Molano Mateos
Publikováno v:
Revista del Laboratorio Clínico. 6:139
Autor:
Carmen Castro, Carmen Palma Milla, Samuel I. Pascual, Paloma Martínez-Montero, Jesús Molano Mateos, Clara Gómez-González
Publikováno v:
Scopus-Elsevier
Myotonia congenita (MC) is a Mendelian inherited genetic disease caused by the mutations in the CLCN1 gene, encoding the main skeletal muscle ion chloride channel (ClC-1). The clinical diagnosis of MC should be suspected in patients presenting myoton
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