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SCN4ASkeletal Muscle Sodium Channel Gene
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We identified the SCN4A (RefSeq: NM_000334) mutation (c.
SCN4A -associated disorders include hyperkalemic periodic paralysis (hyperPP, OMIM: 170500), hypokalemic periodic paralysis Type 2 (OMIM: 613345), paramyotonia congenita (PMC, OMIM: 168300), sodium channel myotonias (SCM, OMIM: 608390), and congenital myasthenic syndrome (OMIM: 614198).
O objetivo deste trabalho foi verificar a prevalencia da mutacao no gene SCN4A, responsavel pela HYPP em equinos da raca QM, utilizados em cinco modalidades esportivas no Brasil.
Apartir da sequencia do gene SCN4A equino (Gene ID: 100049793) depositada no Genbank[TM], foram desenhados oligonucleotideos iniciadores (SCN4A-F, 5'- ACGAAGCAGGTGTTCGACAT-3' e SCN4A-R, 5' ATTCACGTGTGTGCAGGCAA-3') utilizando o programa Primer Express[R] (Life Technologies[TM]).
4 channels are expressed principally in the skeletal muscle cells, but there are some demonstrations that the SCN4A asubunit gene is expressed in normal human heart too (3).