Амилоидоз финского типа

Амилоидоз финского типа
Диаграмма джелсолина, демонстрирующая образование из него амилоидного белка вследствие мутации в кодоне 187 гена GSN
Диаграмма джелсолина, демонстрирующая образование из него амилоидного белка вследствие мутации в кодоне 187 гена GSN
МКБ-9 277.3
OMIM 105120
DiseasesDB 32688

Амилоидоз финского типа — редкая форма амилоидоза, ассоциированная с геном джелсолина.[1] Отмечается потеря эластичности кожи, атаксия. Частью клинической картины является решётчатая дистрофия роговицы II типа.

Решётчатая дистрофия роговицы при амилоидозе финского типа. Из обзора Klintworth, 2009.[2]

См. также

Примечания

  1. ↑ de la Chapelle A., Kere J., Sack G.H., Tolvanen R., Maury C.P. Familial amyloidosis, Finnish type: G654----a mutation of the gelsolin gene in Finnish families and an unrelated American family (англ.) // Genomics : journal. — Academic Press, 1992. — July (vol. 13, no. 3). — P. 898—901. — doi:10.1016/0888-7543(92)90182-R. — PMID 1322359. Архивировано 11 апреля 2018 года.
  2. ↑ Klintworth G.K. Corneal dystrophies (англ.) // Orphanet Journal of Rare Diseases[англ.]. — 2009. — Vol. 4. — P. 7. — doi:10.1186/1750-1172-4-7. — PMID 19236704. — PMC 2695576.

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