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GENATLAS PHENOTYPE

last update : 29-12-2016

Symbol	MTRNR2D
Location	mt
Name	mitochondrially encoded 16S RNA deficiency
Corresponding gene	MT-RNR2
Main clinical features	profound and combined respiratory chain deficiency with a severe myopathy and cardiomyopathy at muscle biopsy, abnormal presence of ragged-red fibers (RRF) with over 85% of cytochrome c oxidase (Cox)-negative fibers
Genetic determination	mitochondrial
Function/system disorder	neuromuscular
Type	disease

Remark(s)

Genotype/Phenotype correlations

1673T>C mutation, a novel mitochondrial DNA mutation in the 16S ribosomal RNA gene associated to isolated late-onset, progressive, and ski-sloping sensorineural hearing loss (PMID: 24770403)) mitochondrial 16S rRNA 2336T>C mutation associated with maternally inherited hypertrophic cardiomyopathy (HCM) combined with atrioventricular block (AVB) (PMID: 24367055))