Visit Metagene.de!
Summary
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 24 (MC1DN24)
NDUFB9
618245
OMIM = Online Medalian Inheritance of Men
2609
8q24.13
rare
autosomal recessive
mutation in the NDUFB9 gene
symptoms
hypotonia
laboratory finding
L-Lactic acid mmol/lserum
Literature
Wongsaengsak S,et al.A novel SLC12A1 gene mutation associated with hyperparathyroidism, hypercalcemia, nephrogenic diabetes insipidus, and nephrocalcinosis in four patientsBone970121-1252017