sameAs
Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndromeMyopathy, lactic acidosis, and sideroblastic anemia: a new syndrome.Mitochondrial myopathy, lactic acidosis, and sideroblastic anemia (MLASA) plus associated with a novel de novo mutation (m.8969G>A) in the mitochondrial encoded ATP6 geneMorphologic features of normoblasts in a case of myopathy, lactic acidosis, and sideroblastic anemia.A distinct mitochondrial myopathy, lactic acidosis and sideroblastic anemia (MLASA) phenotype associates with YARS2 mutations.Familial association of metabolic myopathy, lactic acidosis and sideroblastic anemiaA novel homozygous YARS2 mutation causes severe myopathy, lactic acidosis and sideroblastic anemia 2The phenotypic spectrum of germline variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2
P921
Q24337244-0BF2A908-356A-44D2-8E10-359B4ED3EF54Q41928498-AD67FC6E-6343-480D-8FDF-8BE5AEA63ECAQ41931353-D34FF5B6-7533-4AC2-B5BF-127C8C82C929Q48200646-2930A31A-EEA7-48BD-866F-82AF64E6897FQ55530831-F81965DC-F3D2-498E-85ED-C2F3FEBA1776Q59242115-2DB6532F-3A8D-4883-92F8-DFFD899AA6DFQ59697623-D65DA275-D1C0-42FD-BA52-F2874DCBF96AQ59797146-B5E14E7E-2EB7-4BCE-818D-6DD00104EBC1
P921
description
Human disease
@en
Krankheit
@de
مرض يصيب الإنسان
@ar
name
MLASA
@bar
MLASA
@de
MLASA
@de-ch
myopathie mitochondriale et anémie sidéroblastique
@fr
myopathy, lactic acidosis, and sideroblastic anemia
@en
type
label
MLASA
@bar
MLASA
@de
MLASA
@de-ch
myopathie mitochondriale et anémie sidéroblastique
@fr
myopathy, lactic acidosis, and sideroblastic anemia
@en
altLabel
MLASA
@en
Myopathie, LaktatAzidose und Sideroblastische Anämie
@de
mitochondrial myopathy and sideroblastic anemia
@en
prefLabel
MLASA
@bar
MLASA
@de
MLASA
@de-ch
myopathie mitochondriale et anémie sidéroblastique
@fr
myopathy, lactic acidosis, and sideroblastic anemia
@en
P492
P492
P5270
MONDO:0000863
P699
DOID:0080099