TMBIM5 loss of function alters mitochondrial matrix ion homeostasis and causes a skeletal myopathy
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DOI: 10.26508/lsa.202201478
Abstract: TMBIM5 deficiency reduces mitochondrial K+/H+ exchange. Mutation of the channel pore in mice destabilizes the protein and results in increased embryonic lethality and a skeletal myopathy. Ion fluxes across the inner mitochondrial membrane control mitochondrial… read more here.
Keywords: mitochondrial matrix; function; loss; ion ... See more keywords
Homozygous Nonsense Mutation p.Q274X in TRIM63 (MuRF1) in a Patient with Mild Skeletal Myopathy and Cardiac Hypertrophy.
Sign Up to like & getrecommendations! Published in 2019 at "Journal of neuromuscular diseases"
DOI: 10.3233/jnd-180350
Abstract: TRIM63 mutations have been described as a potential cause for cardiac and skeletal myopathy in only one family so far. We describe a new patient carrying the same homozygous TRIM63 nonsense mutation c.739 C>T p.Q247X,… read more here.
Keywords: trim63; cardiac hypertrophy; skeletal myopathy; nonsense mutation ... See more keywords