608807.1

Lebanon

Hypotonia; Motor delay; Lactic acidosis; Myopathy; Congenital onset; Decreased activity of mitochondrial respiratory chain

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_001267550.2:c.36040A>T	1		Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
NM_001267550.2:c.68529del	1		Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10