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CHOU, CHUNG‐TEI; LEE, CHENG‐CHUN; CHANG, DEH‐MING; BUXBAUM, JOEL N.; JACOBSON, DANIEL R.
Journal of internal medicine, April 1997, Letnik: 241, Številka: 4Journal Article
Three members of a Taiwanese kindred developed severe, systemic, early onset (<age 25 years), biopsy‐proven amyloidosis. Clinical features included upper and lower extremity sensorimotor neuropathy, abdominal pain, vomiting, corneal ulcerations, cardiomyopathy, and syncope. Immunohistochemical analysis indicated that the deposits consisted of transthyretin. Molecular genetic studies revealed a heterozygous codon 55 point mutation, resulting in a proline for leucine substitution, a mutation previously associated with aggressive familial amyloidosis in a US kindred of Dutch and German descent. The clinical courses and echocardiographic findings are typical for many types of amyloidosis; the pathologic data and genetic studies were necessary to establish a precise diagnosis.
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JCR | SNIP | JCR | SNIP | JCR | SNIP | JCR | SNIP |
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in: SICRIS
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