No abstract available
MeSH terms
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Carrier Proteins / genetics
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Developmental Disabilities / etiology*
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Exome Sequencing / methods
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Female
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Humans
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Infant
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Metabolomics / methods
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Mitochondrial Diseases / complications*
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Mitochondrial Diseases / diagnosis*
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Mitochondrial Diseases / genetics
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Muscle Hypotonia / etiology*
Substances
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Carrier Proteins
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NFU1 protein, human
Supplementary concepts
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Multiple Mitochondrial Dysfunctions Syndrome