Tensor tympani- The tensor tympani is the larger of the two muscles of the auditory canal, the other being stapedius. The muscle functions to dampen down sounds such as chewing. It arises from the cartilaginous portion of the eustachian tube as well as the adjacent section of the greater wing of the sphenoid bone.
A nonsense mutation in the leptin gene that results in a stop codon and lack of leptin production was first observed in mice in 1950. In the mouse gene, arginine-105 is encoded by CGA and only requires one nucleotide change to create the stop codon TGA.
Mutations in the LMNA gene are associated with several diseases, including Emery-Dreifuss muscular dystrophy, familial partial lipodystrophy, limb girdle muscular dystrophy, dilated cardiomyopathy, Charcot-Marie-Tooth disease, restrictive dermopathy and Hutchinson-Gilford progeria syndrome.n the setting of ZMPSTE24 deficiency, the final step of lamin processing does not occur, resulting in an accumulation of farnesyl-prelamin A. In Hutchinson-Gilford progeria syndrome, a 50-amino acid deletion in prelamin A (amino acids 607â656) removes the site for the second endoproteolytic cleavage.