A miotonia cong???nita tipo Becker ??? uma doen???a autoss???mica recessiva n???o distr???fica do m???sculo esquel???tico, causada por muta??????es no gene CLCN1. Com uma frequ???ncia de 0,6 por 100.000, a miotonia cong???nita tipo Becker pertence ao grupo das doen???as raras. Em termos de um pa???s pequeno como a Bulg???ria, isto significa apenas casos isolados, o que complica seriamente o reconhecimento e a carateriza??????o desta doen???a. O presente estudo engloba os primeiros casos geneticamente confirmados de miotonia ...
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A miotonia cong???nita tipo Becker ??? uma doen???a autoss???mica recessiva n???o distr???fica do m???sculo esquel???tico, causada por muta??????es no gene CLCN1. Com uma frequ???ncia de 0,6 por 100.000, a miotonia cong???nita tipo Becker pertence ao grupo das doen???as raras. Em termos de um pa???s pequeno como a Bulg???ria, isto significa apenas casos isolados, o que complica seriamente o reconhecimento e a carateriza??????o desta doen???a. O presente estudo engloba os primeiros casos geneticamente confirmados de miotonia cong???nita tipo Becker na Bulg???ria. A abordagem gen???tica molecular aplicada levou ??? identifica??????o das muta??????es causadoras da doen???a em 78% das fam???lias testadas. Al???m disso, foram estudadas duas presum???veis regi???es end???micas, o que levou ??? identifica??????o de uma frequ???ncia significativa de portadores em ambas as regi???es de interesse. Estes resultados s???o de import???ncia crucial para os habitantes das regi???es correspondentes da Bulg???ria em termos de rastreio oportuno e aconselhamento gen???tico adequado durante o planeamento familiar.
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Fine. Text in Portuguese. Trade paperback (US). Glued binding. In Stock. 100% Money Back Guarantee. Brand New, Perfect Condition, allow 4-14 business days for standard shipping. To Alaska, Hawaii, U.S. protectorate, P.O. box, and APO/FPO addresses allow 4-28 business days for Standard shipping. No expedited shipping. All orders placed with expedited shipping will be cancelled. Over 3, 000, 000 happy customers.
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New. Text in Portuguese. Trade paperback (US). Glued binding. In Stock. 100% Money Back Guarantee. Brand New, Perfect Condition, allow 4-14 business days for standard shipping. To Alaska, Hawaii, U.S. protectorate, P.O. box, and APO/FPO addresses allow 4-28 business days for Standard shipping. No expedited shipping. All orders placed with expedited shipping will be cancelled. Over 3, 000, 000 happy customers.
