Open AccessGATM Mutations Cause a Dominant Fibrillar Conformational Disease in Mitochondria—When Eternity Kills
Author(s) -
Pierre J. Courtoy,
Patrick Henriet
Publication year - 2018
Publication title -
journal of the american society of nephrology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.451
H-Index - 279
eISSN - 1533-3450
pISSN - 1046-6673
DOI - 10.1681/asn.2018040450
Subject(s) - eternity , mitochondrion , disease , biology , medicine , chemistry , genetics , philosophy , theology
More than 60 years ago, Luder and Sheldon[1][1] and then, other nephrologists reported on a rare form of autosomal dominant renal Fanconi syndrome (RFS) that appeared in childhood and slowly evolved toward kidney insufficiency. These clinical features were thus quite distinct from nephropathic
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