Expanding the clinical phenotype of IARS2-related mitochondrial disease

Expanding the clinical phenotype of IARS2-related mitochondrial disease

Abstract Background IARS2 encodes a mitochondrial isoleucyl-tRNA synthetase, a highly conserved nuclear-encoded enzyme required for the charging of tRNAs with their cognate amino acid for translation. Recently, pathogenic IARS2 variants have been identified in a number of patients presenting broad c...

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Bibliographic Details
Main Authors: Barbara Vona, Reza Maroofian, Emanuele Bellacchio, Maryam Najafi, Kyle Thompson, Ahmad Alahmad, Langping He, Najmeh Ahangari, Abolfazl Rad, Sima Shahrokhzadeh, Paulina Bahena, Falk Mittag, Frank Traub, Jebrail Movaffagh, Nafise Amiri, Mohammad Doosti, Reza Boostani, Ebrahim Shirzadeh, Thomas Haaf, Daria Diodato, Miriam Schmidts, Robert W. Taylor, Ehsan Ghayoor Karimiani
Format: Article
Language:English
Published: BMC 2018-11-01
Series:BMC Medical Genetics
Subjects:
Adrenal insufficiency
CAGSSS
Cataracts
Growth hormone deficiency
IARS2
Sensory neuropathy
Online Access:http://link.springer.com/article/10.1186/s12881-018-0709-3

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http://link.springer.com/article/10.1186/s12881-018-0709-3

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