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MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA

Known as: MMDS2 
 
National Institutes of Health

Related topics

Related topics

11 relations
Abnormality of extrapyramidal motor functionAcidosis, LacticAutosomal recessive inheritanceCardiomyopathy, Dilated
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Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
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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