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Brain Dev ; 21(4): 244-7, 1999 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-10392746

RESUMO

The clinical and molecular features of 25 Duchenne (DMD), two intermediate (D/BMD) and three Becker (BMD) muscular dystrophy patients from 26 unrelated families were evaluated. Early psychomotor development was normal in patients with D/BMD and BMD. Learning to walk independently after 15 months of age was a risk sign of DMD in nine (36%) patients. Abnormality in crawling was seen in 13 (54%) patients with DMD. These boys demonstrated initial symptoms earlier than those who learned to crawl normally. Mental retardation was established in five (20%) patients with DMD. Deletions in the dystrophin gene were found in 11 families (48%). They were accumulated (9/11, 82%) in the distal region of the gene.


Assuntos
Distrofias Musculares/diagnóstico , Adolescente , Adulto , Criança , Pré-Escolar , Estudos de Coortes , Creatina Quinase/sangue , Distrofina/genética , Distrofina/metabolismo , Estônia , Deleção de Genes , Humanos , Deficiência Intelectual/diagnóstico , Masculino , Transtornos dos Movimentos/diagnóstico , Músculo Esquelético/metabolismo , Distrofias Musculares/genética , Distrofias Musculares/metabolismo , Estudos Prospectivos , Estudos Retrospectivos , Distúrbios da Fala/diagnóstico
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