MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA

Known as: MMDS2 
 
National Institutes of Health

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11 relations
Abnormality of extrapyramidal motor functionAcidosis, LacticAutosomal recessive inheritanceCardiomyopathy, Dilated
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2018
2018
ISCA1 Mutation In A Patient With Infantile-Onset Leukodystrophy Causes Defects In Mitochondrial [4Fe-4S] Proteins.
Multiple Mitochondrial Dysfunction Syndromes (MMDS) comprise a group of severe autosomal recessive diseases characterized by… Expand
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