609560.2.1

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; Respiratory failure requiring assisted ventilation

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Sex

Female

Parental Consanguinity

Yes

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

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
609560.2.2	Palestine		Female			Mother of 609560.2.1
609560.2.3	Palestine		Male			Father of 609560.2.1