Myopathy, Lactoc Acidosis, and Sideroblastic Anemia 2

Alternative Names

  • MLASA2
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WHO-ICD-10 version:2010

Diseases of the nervous system

Diseases of myoneural junction and muscle

OMIM Number

613561

Mode of Inheritance

Autosomal recessive

Gene Map Locus

12p11.21

Description

Myopathy, lactic acidosis, and sideroblastic anemia-2 is an autosomal recessive disorder of the mitochondrial respiratory chain. The disorder shows marked phenotypic variability: some patients have a severe multisystem disorder from infancy, including cardiomyopathy and respiratory insufficiency resulting in early death, whereas others present in the second or third decade of life with sideroblastic anemia and mild muscle weakness. [From OMIM]

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
613561.1.1LebanonMaleYesYes Sideroblastic anemia; Lactic acidosis; ...NM_001040436.3:c.156C>GHomozygousAutosomal, RecessiveRiley et al. 2010
613561.1.2LebanonFemaleYesYes Sideroblastic anemia; Lactic acidosis; ...NM_001040436.3:c.156C>GHomozygousAutosomal, RecessiveRiley et al. 2010 Sibling of 613561.1....
613561.3LebanonMaleNo Sideroblastic anemia; Lactic acidosis; ...NM_001040436.3:c.137G>AHomozygousAutosomal, RecessiveSasarman et al. 2012; Sasarman et al. 2002
613561.4.1LebanonFemaleNoNo Lactic acidosis; Anemia; Ventricular...NM_001040436.3:c.156C>GHomozygousAutosomal, RecessiveRiley et al. 2013 Two subsequent pregn...
613561.5LebanonFemaleYesNo Lactic acidosis; Sideroblastic Anemia; ...NM_001040436.3:c.156C>GHomozygousAutosomal, RecessiveRiley et al. 2013 Possibly affected de...
613561.6LebanonMaleNo Sideroblastic Anemia; Myopathy ; Lacti...NM_001040436.3:c.156C>GHomozygousAutosomal, RecessiveShahni et al. 2013
613561.7LebanonFemaleNo Sideroblastic anemia; Severe; Myopat...NM_001040436.3:c.156C>GHomozygousAutosomal, RecessiveRiley et al. 2018
613561.8.1LebanonMaleYesYes Sideroblastic anemia; Severe; Atrial s...NM_001040436.3:c.156C>GHomozygousAutosomal, RecessiveRiley et al. 2018
613561.8.2LebanonFemaleYesYes Sideroblastic anemia; MildNM_001040436.3:c.156C>GHomozygousAutosomal, RecessiveRiley et al. 2018
613561.9LebanonMaleNo Sideroblastic anemia; Severe; Lactic a...NM_001040436.3:c.156C>GHomozygousAutosomal, RecessiveRiley et al. 2018
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