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500009.1
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Subject Details
Country
United Arab Emirates
HPO Terms
Failure to thrive; Ptosis; Myopathy;
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Sex
Unknown
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NC_012920.1:m.5591G>A
Mitochondrial Myopathy, Infantile, Transient
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Remarks
56-59% heteroplasmy
References
Al-Shamsi et al. 2016
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