Two Spanish sibs with familial amyloidotic polyneuropathy homozygous for the V30M-TTR gene
| Autor: | Paul Moreira, Carlos Viader-Farré, Miguel Munar-Qués, J. M. López Domínguez, Maria João Saraiva |
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| Rok vydání: | 2001 |
| Předmět: |
Male
medicine.medical_specialty Fatal outcome Biopsy Fatal Outcome Internal medicine Internal Medicine medicine Humans Prealbumin Peripheral Nerves Gene Aged Amyloid Neuropathies Familial biology medicine.diagnostic_test business.industry Homozygote Stomach DNA Cranial neuropathy Middle Aged medicine.disease Autonomic involvement Transthyretin Amyloid Neuropathy Endocrinology Spain biology.protein Female business Polyneuropathy Polymorphism Restriction Fragment Length |
| Zdroj: | CIÊNCIAVITAE Scopus-Elsevier |
| ISSN: | 1350-6129 |
| Popis: | Two Spanish sibs with familial amyloidotic polyneuropathy (FAP) homozygous for the V30M-TTR gene, were diagnosed by DNA and protein analyses. Their clinical picture was very similar to the Majorcan FAP heterozygous patients except for the sensorimotor syndrome which was more aggressive. Noteworthy were clinical differences between the sibs concerning autonomic involvement, cranial neuropathy and kidney disturbances. These differences can be due to genetic and/or environmental factors. |
| Databáze: | OpenAIRE |
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