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Kennedy's disease phenotype with positive genetic study for Kugelberg-Welander's disease: case report
Trentin, Ana P; Scola, Rosana H; Teive, Hélio A. G; Raskin, Salmo; Germiniani, Francisco M. B; Werneck, Lineu C.
  • Trentin, Ana P; Universidade Federal do Paraná. Clinical Hospital. Department of Internal Medicine. Neuromuscular Service. Curitiba. BR
  • Scola, Rosana H; Universidade Federal do Paraná. Clinical Hospital. Department of Internal Medicine. Neuromuscular Service. Curitiba. BR
  • Teive, Hélio A. G; Universidade Federal do Paraná. Clinical Hospital. Department of Internal Medicine. Neuromuscular Service. Curitiba. BR
  • Raskin, Salmo; Genetika Laboratory. Curitiba. BR
  • Germiniani, Francisco M. B; Universidade Federal do Paraná. Clinical Hospital. Department of Internal Medicine. Neuromuscular Service. Curitiba. BR
  • Werneck, Lineu C; Universidade Federal do Paraná. Clinical Hospital. Department of Internal Medicine. Neuromuscular Service. Curitiba. BR
Arq. neuropsiquiatr ; 63(2a): 330-331, jun. 2005.
Article in English | LILACS | ID: lil-403033
RESUMO
Descrevemos um paciente com achados clínicos de doença de Kennedy e estudo genético positivo para doença de Kugelberg-Welander. Homem, 24 anos e história familiar negativa, iniciou aos 14 anos com atrofia muscular espinhal de caráter progressivo com ginecomastia. Obteve diagnóstico clínico de doença de Kennedy, entretanto o estudo genético foi negativo para esta doença e positivo para doença de Kugelberg-Welander, com deleções dos exons 7 e 8 e do gene do survival of motor neuron.
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Full text: Available Index: LILACS (Americas) Main subject: Phenotype / Spinal Muscular Atrophies of Childhood / RNA-Binding Proteins / Cyclic AMP Response Element-Binding Protein / Nerve Tissue Proteins Type of study: Diagnostic study Limits: Adult / Humans / Male Language: English Journal: Arq. neuropsiquiatr Journal subject: Neurology / Psychiatry Year: 2005 Type: Article Affiliation country: Brazil Institution/Affiliation country: Genetika Laboratory/BR / Universidade Federal do Paraná/BR

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Full text: Available Index: LILACS (Americas) Main subject: Phenotype / Spinal Muscular Atrophies of Childhood / RNA-Binding Proteins / Cyclic AMP Response Element-Binding Protein / Nerve Tissue Proteins Type of study: Diagnostic study Limits: Adult / Humans / Male Language: English Journal: Arq. neuropsiquiatr Journal subject: Neurology / Psychiatry Year: 2005 Type: Article Affiliation country: Brazil Institution/Affiliation country: Genetika Laboratory/BR / Universidade Federal do Paraná/BR