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GENATLAS PHENOTYPE

last update : 01-09-2011

Symbol	CMTND1
Location	5q11.2
Name	mitochondrial complex 1 deficiency 1
Corresponding gene	NDUFS4
Main clinical features	myopathy mitochondrial with deficiency of respiratory chain at the cerebral MRI, presence of striatal anomalies (PMID: 20972245))
Genetic determination
Function/system disorder	neurology
Type	disease

Gene product

Name	NADH dehydrogenase (ubiquinone) Fe-S protein 4

Remark(s)