As miopatias desmina-associadas compreendem doenças familiais caracterizadas por fraqueza muscular associada a bloqueio de condução cardíaca, arritmia e falência cardíaca, e acúmulo de depósitos intracitoplamáticos de desmina nas fibras musculares esqueléticas e cardíacas.
A desmina é um componente dos filamentos intermediários do músculo. O gene da desmina foi localizado no cromossomo 2q35. O padrão de expressão da desmina durante o desenvolvimento muscular e a redistribuição da proteína a partir dos filamentos citoplasmáticos para o disco Z durante a formação das miofibrilas sugere um papel para este gene na diferenciação muscular.
Muitas miopatias congênitas e hereditárias tem apresentado um acúmulo de desmina, observado através de estudos imunohistoquímicos com marcação com anticorpos específicos. Entretanto mutações de sentido trocado no gene da desmina foram encontradas em apenas parte destes casos, e com uma variabilidade clínica significativa (Goldfarb et al., 1998; Li et al., 1999).
Desproporção Congênita De Tipo De Fibras
Esta miopatia se caracteriza por hipotonia neonatal e fraqueza muscular associada a uma atrofia das fibras do tipo I. O defeito primário parece estar nas fibras tipo I. Este tipo de desproporção pode ser encontrado em muitas outras miopatias, tais como miopatia nemalínica e miopatia de Central core.
A historia natural desta miopatia congênita é variável e o prognóstico é geralmente bom, apesar da possível gravidade quando há problemas respiratórios. Não há relatos de famílias afetadas, mas há vários casos onde se suspeita de um padrão de herança AR ou AD.
Gerdes et al. (1994) sugeriram que o gene para esta miopatia poderia estar localizado nos cromossomos 10 ou 17, baseando-se em uma paciente afetada portadora de uma translocação balanceada t(10;17)(p11.2;q25), herdada de sua mãe, clinicamente normal. Este caso sugere um padrão de herança dominante, com expressividade variável.
Entretanto, até a presente data, não há relatos de localização cromossômica, ou genes candidatos para esta doença.
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