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Sarcoglycan complex is also secondarily reduced in Duchenne muscular dystrophy (DMD), when dystrophin is missing [2], indicating that DMD muscle suffers from combined dystrophin and sarcoglycan complex deficiencies [3].
Subtle or complex deficiencies, particularly in cognitive function, may not have been identified in the dataset.
Indeed patients with mutations in mitochondrial rRNA and tRNA genes have multiple complex deficiencies (Hao and Moraes, 1996; Hinttala et al., 2006).
However, these general principles are not invariably true, because patients with mtDNA depletion may have isolated complex deficiencies early in the disease course.
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(A, B ) Myriocin treatment reduced build-up of free cholesterol due to GARP complex deficiency.
(E ) GARP complex deficiency results in an accumulation of long-chain bases.
(D ) Myriocin treatment reduced accumulations of early sphingolipid intermediates due to GARP complex deficiency.
Identification of an isolated complex deficiency led us to sequence mtDNA genes coding for the complex I subunits.
45 The third cluster comprises paragangliomas (PS168000), pyruvate dehydrogenase complex deficiency (PDCD; PS312170), and maple syrup urine disease (MSUD; PS248600).
Currently, it is unclear why only a small subset of esBAF-enriched replication domains is sensitive to esBAF complex deficiency.
We demonstrated the biological relevance of this tool by analysing aging, cancer and mitochondrial I complex deficiency seed lists.
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