Rhabdomyolysis and Metabolic Myopathy

Gene: YARS2

Green List (high evidence)

5 unrelated families reported with bi-allelic missense and truncating variants; the c.156C4G (p.Phe52Leu) variant is common in the Turkish/ Lebanese population

The phenotype of Myopathy, lactic acidosis, and sideroblastic anaemia 2 is highly variable with onset in infancy or early childhood, but most patients present with muscle atrophy, myopathy, lactic acidosis, and sideroblastic anaemia. Other features include Failure to thrive and Anaemia in infancy, Hypertrophic cardiomyopathy, Hepatomegaly, Decreased cytochrome C oxidase activity and Exercise intolerance.

Created: 7 Sep 2021, 7:42 a.m. | Last Modified: 7 Sep 2021, 7:42 a.m.

Panel Version: 0.9095

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myopathy, lactic acidosis, and sideroblastic anaemia 2 MIM# 613561; sideroblastic anaemia; muscle atrophy; myopathy; lactic acidosis; Hypertrophic cardiomyopathy; Hepatomegaly; Decreased cytochrome C oxidase activity

Publications

• 24430573
• 24344687

Green List (high evidence)

Onset of myopathy in the neonatal and infancy period.

PMID: 24430573: One hom family and reviews 3 other families.

PMID: 28395030: Adult patients reported however onset of disease in childhood

Created: 15 Jun 2020, 1:17 a.m. | Last Modified: 15 Jun 2020, 1:17 a.m.

Panel Version: 0.176

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myopathy, lactic acidosis, and sideroblastic anemia 2 (MIM#613561)

Publications

• 24430573
• 28395030

Green List (high evidence)

Exercise intolerance is a prominent presenting feature of the condition.
Sources: Expert list

Created: 29 May 2020, 8:24 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myopathy, lactic acidosis, and sideroblastic anemia 2 MIM#613561

Publications

• 28395030