associação na mesma família das doenças de charcot-marie-tooth e de friedreich
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ID: 226501
1972
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Abstract
Quatro irmãos com moléstias de Charcot-Marie-Tooth são estudados do ponto de vista clínico e genético. São ressaltadas, mediante análise da sintomatologia, as formas de transição no grande grupo de moléstias heredodegenerativas, sendo atribuída particular ênfase às formas entre a moléstia de Charcot-Marie-Tooth e a de Friedreich. Nos casos apresentados havia sinais clínicos da amiotrofia de Charcot-Marie-Tooth e da degeneração espinocerebelar de Friedreich. No estudo genético foram observadas aberrações cromossômicas, fenômeno inédito na moléstia de Charcot-Marie-Tooth.
| Reference Key |
tilbery1972arquivosassociao
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|---|---|
| Authors | ;Charles Peter Tilbery;Décio Cassiani Altimari;Luiz G. Gagliardi-Ferreira;José L. Alonso Nieto |
| Journal | communications in computer and information science |
| Year | 1972 |
| DOI |
10.1590/S0004-282X1972000200009
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| URL | |
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