Homozygous n.64C>T mutation in mitochondrial RNA-processing endoribonuclease gene causes Cartilage Hair Hypoplasia Syndrome in two siblings.
Sign Up to like & getrecommendations! Published in 2021 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2021.104136
Abstract: Cartilage hair hypoplasia syndrome (OMIM # 250250) is a rare autosomal recessive metaphyseal dysplasia, characterized by disproportionate short stature, hair hypoplasia and variable extra-skeletal manifestations, including immunodeficiency, anemia, intestinal diseases and predisposition to cancers. Cartilage… read more here.
Keywords: mutation mitochondrial; cartilage hair; hypoplasia syndrome; rna processing ... See more keywords
Broadening the phenotype of m.5703G>A mutation in mitochondrial tRNAAsn gene from mitochondrial myopathy to myoclonic epilepsy with ragged red fibers syndrome
Sign Up to like & getrecommendations! Published in 2019 at "Chinese Medical Journal"
DOI: 10.1097/cm9.0000000000000151
Abstract: masticatory and facial muscles, and mild dysarthria and To the Editor: Mutations in mitochondrial DNA (mtDNA) cause mitochondrial diseases with multisystem involvedysphagia. At the age of 32, he complained of distal ment and variable clinical… read more here.
Keywords: merrf; mutation mitochondrial; mitochondrial myopathy; 5703g mutation ... See more keywords