609560.3

Country

Palestine

HPO Terms

Generalized hypotonia; Decreased activity of mitochondrial complex I; Decreased activity of mitochondrial complex III; Decreased activity of mitochondrial complex IV; Elevated circulating creatine kinase concentration; Death in infancy

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Sex

Female

Parental Consanguinity

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_004614.5:c.635T>A	2		Mitochondrial DNA Depletion Syndrome 2 (Myopathic Type)

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Remarks

Several siblings died of a degenerative muscle disease

References

Saada et al. 2001