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Most cases are sporadic [MISCELLANEOUS] Some pedigrees are consistent with autosomal dominant inheritance [MISCELLANEOUS] Onset before age 20 [MISCELLANEOUS] Single mitochondrial DNA deletions are found in sporadic KSS patients [MISCELLANEOUS] Caused by mutation in the mitochondrial tRNA (leucine)-1 gene (MTTL1, 590050.0011) [MOLECULAR BASIS] Multiple mitochondrial DNA deletions are found in autosomal dominant pedigrees [MISCELLANEOUS] Caused by deletion of multiple genes in the mitochondrial DNA [MOLECULAR BASIS]
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