Llwytho...

Proximal Myopathy due to m.5835G>A Mutation in Mitochondrial MT-TY Gene

Mitochondrial (mt) tRNA (MTT) gene mutations are an important cause of mitochondrial diseases and are associated with a wide range of clinical presentations. Most mutations fall into three mitochondrial tRNAs (tRNAIle, tRNALeu (UUR), and tRNALys) and are responsible for half of the mitochondrial dis...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Case Rep Neurol Med
Prif Awduron: Simoncini, C., Montano, V., Alì, G., Costa, R., Siciliano, G., Mancuso, M.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Hindawi 2018
Pynciau:
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC6311237/
https://ncbi.nlm.nih.gov/pubmed/30643656
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2018/8406712
Tagiau: Ychwanegu Tag
Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!