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Schwartz-jampel syndrome: report of five cases

We describe five patients with Schwartz-Jampel syndrome (SJS) examined at the outpatient service for neuromuscular disorders at our Institution from 1996 to 1999 with the objective of emphasizing the characteristic dysmorphic phenotype of SJS and its different clinical forms. Two cases presented SJS...

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Uloženo v:
Hlavní autoři: Umbertina Conti Reed, Rubens Reimão, Adriana Ávila Espíndola, Fernando Kok, Lúcio Gobbo Ferreira, Maria Bernardete Dutra Resende, Thelma Correia Messias, Mary Souza Carvalho, Aron Diament, Milberto Scaff, Suely Kazue Nagahashi Marie
Médium: Artigo
Jazyk:Inglês
Vydáno: Thieme Revinter Publicações 2002-09-01
Edice:Arquivos de Neuro-Psiquiatria
Témata:
Schwartz-Jampel syndrome
myotonia
carbamazepine
On-line přístup:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2002000500010&tlng=en
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