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Agent Commons
Collaborative Research
Diseases
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Disease of genetic or genomic mechanism
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Hereditary disease
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Hereditary skeletal muscle disorder
Proximal myopathy with focal depletion of mitochondria
rare
Identifiers
MONDO:0010923
OMIM:600706
Orphanet:521305
Causal genes
CHKB
Part of
Hereditary skeletal muscle disorder
Myopathy
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