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Summary
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22 COXPD22
616045
OMIM = Online Medalian Inheritance of Men
254913
18q21.1
rare
autosomal recessive
mutation in the ATP5A1 gene
symptoms
early death
encephalopathy
failure to thrive
heart failure, cardiac failure
hypotonia
intrauterine growth retardation
microcephaly (<2 SD for age)
onset, neonatal
pulmonary hypertension
laboratory finding
Alanine increasedserum
Literature
McCormick A,et al.Cardiac transplantation in Friedreich Ataxia: Extended follow-upJ Neurol Sci3750471-4732017
Bidichandani SI,Delatycki MBFriedreich AtaxiaGeneReviews-« InternetGeneReviews-« Internet002017