The expanding LARS2 phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathy.

The expanding LARS2 phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathy. Hum Mutat. 2020 08; 41(8):1425-1434.

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subject areas

Acidosis, Lactic
Acidosis, Lactic
Adult
Adult
Amino Acyl-tRNA Synthetases
Amino Acyl-tRNA Synthetases
Anemia, Sideroblastic
Anemia, Sideroblastic
Edema
Edema
Female
Female
Gonadal Dysgenesis, 46,XX
Gonadal Dysgenesis, 46,XX
Hearing Loss, Sensorineural
Hearing Loss, Sensorineural
Humans
Humans
Infant
Infant
Male
Male
Middle Aged
Middle Aged
Mitochondrial Myopathies
Mitochondrial Myopathies
Phenotype
Phenotype
Protein Structure, Tertiary
Protein Structure, Tertiary

authors with profiles

Sirish Kumar Palle