RESUMO
Desmin myopathy was identified in a Chinese man with complete heart block and mild proximal and distal limb weakness. A novel heterozygous missense S13F mutation of the desmin gene was found to be associated with the myopathy. Family members carrying the mutation showed a similar or milder phenotype. The mutation is located at a protein kinase-C phosphorylation site within a highly conserved nonapeptide sequence in the head domain of the desmin protein. Expression of the mutant desmin cDNA in cell lines induced large desmin accumulations associated with preservation of a filamentous network.
Assuntos
Desmina/genética , Desmina/metabolismo , Bloqueio Cardíaco/genética , Debilidade Muscular/genética , Mutação de Sentido Incorreto , Adulto , Animais , Povo Asiático/genética , Biópsia , Neoplasias da Mama , Linhagem Celular Tumoral , Cricetinae , Saúde da Família , Feminino , Bloqueio Cardíaco/patologia , Humanos , Rim/citologia , Masculino , Debilidade Muscular/patologia , Linhagem , Fenótipo , Fosforilação , Proteína Quinase C/metabolismo , TransfecçãoRESUMO
We report a Chinese patient with amyloidotic polyneuropathy associated with a novel transthyretin mutation (V32A). He presented with slowly progressive sensorimotor polyneuropathy accompanied by autonomic dysfunction and cardiomyopathy by echocardiography. This mutation is likely to be associated with late onset and low-penetrance phenotype.
