Expanding the clinical phenotype of IARS2-related mitochondrial disease.
Vona, Barbara
Expanding the clinical phenotype of IARS2-related mitochondrial disease. [electronic resource] - BMC medical genetics 11 2018 - 196 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
1471-2350
10.1186/s12881-018-0709-3 doi
Adult
Amino Acid Sequence
Bone Diseases, Developmental--diagnosis
Cataract--diagnosis
Consanguinity
Female
Gene Expression
Hearing Loss, Sensorineural--diagnosis
Hereditary Sensory and Autonomic Neuropathies--diagnosis
Homozygote
Humans
Isoleucine-tRNA Ligase--genetics
Leigh Disease--diagnosis
Male
Mitochondrial Diseases--diagnosis
Models, Molecular
Mutation, Missense
Pedigree
Protein Conformation
Protein Subunits--genetics
Syndrome
Exome Sequencing
Expanding the clinical phenotype of IARS2-related mitochondrial disease. [electronic resource] - BMC medical genetics 11 2018 - 196 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
1471-2350
10.1186/s12881-018-0709-3 doi
Adult
Amino Acid Sequence
Bone Diseases, Developmental--diagnosis
Cataract--diagnosis
Consanguinity
Female
Gene Expression
Hearing Loss, Sensorineural--diagnosis
Hereditary Sensory and Autonomic Neuropathies--diagnosis
Homozygote
Humans
Isoleucine-tRNA Ligase--genetics
Leigh Disease--diagnosis
Male
Mitochondrial Diseases--diagnosis
Models, Molecular
Mutation, Missense
Pedigree
Protein Conformation
Protein Subunits--genetics
Syndrome
Exome Sequencing