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GENATLAS PHENOTYPE

last update : 15/05/2006

Symbol	MTCMH5D
Location	mt
Name	cardiomyopathy hypertrophic, 5 with diabetes
Corresponding gene	MT-ND1
Main clinical features	isolated or with maternally-inherited type 2 diabetes, hypertrophic cardiomyopathy, neurosensory deafness and migraine, mental retardation
Genetic determination	mitochondrial
Function/system disorder	cardiovascular
	neuromuscular
Type	disease

Gene product

Name	. tR-L1 (3243nt), C3310 T

Remark(s)