CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 3 (CEMCOX3)

Question 1

What is  CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 3 (CEMCOX3)?

Accepted Answer

rare

autosomal recessive

mutation in the COA5 gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 616500

Question 3

Which enzymes are involved?

Accepted Answer

Cytochrome c oxidase assembly factor 5

Disease	CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 3 (CEMCOX3)
OMIM	616500 OMIM = Online Mendelian Inheritance of Men
Protein (UniProt)	Cytochrome c oxidase assembly factor 5
ExPASy	---
Gene locus	2q11.2
ICD	G71.3
Summary	rare autosomal recessive mutation in the COA5 gene
Laboratory findings
Symptoms	cardiomyopathy cardiomyopathy, hypertrophic early death onset, neonatal