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Age structure
- ... chromosomal conditions are associated with changes in the structure or number of copies of mitochondrial dna. Changes in mitochondrial DNA are among the best-studied genetic factors associated with age-related hearing loss. This form of hearing loss ...
- ... Among the best-studied genetic factors associated with age-related hearing loss are changes in mitochondrial DNA (mtDNA). Mitochondria are structures within cells that convert the energy from food ...
- ... British case of fish-eye disease presenting at age 75 years: a double heterozygote for defined and new mutations affecting LCAT structure and expression. J Clin Pathol. 1999 Mar;52( ...
- ... common form of the disorder, which appears after age 50). These mutations replace single amino acids in the dardarin protein, which affects the protein's structure and function. It is unclear how LRRK2 gene ...
- ... fewer facial creases (wrinkles) than others of their age. Scars may be more noticeable or become unusually thickened after healing (keloids or hypertrophic scars).Individuals with Myhre syndrome often have problems with the structure of the heart that are present at birth ( ...
- ... early childhood, but it can occur at any age. It can affect many parts of the body, most often the brain, muscles, and kidneys. The COQ8A gene mutations associated with this disorder change the structure of the COQ8A protein or prevent its production, ...
- ... skills (such as sitting and walking) decline with age. Individuals with CLN7 disease typically do not survive past their teens.MFSD8 gene mutations that cause CLN7 disease likely lead to the production of a protein with altered structure or function. One MFSD8 gene mutation is responsible ...
- ... the cerebrospinal fluid or CSF) can damage these structures and contribute to the neurological features of 3-methylglutaconyl-CoA hydratase deficiency.Because the age at which the condition begins varies widely and ...
- ... early childhood, but it can occur at any age. It can affect many parts of the body, most often the brain, muscles, and kidneys. The COQ6 gene mutations associated with this disorder result in a COQ6 enzyme with an abnormal structure that likely impairs its function, leading to reduced ...
- ... and symptoms of CLN5 disease typically appear around age 5 but can begin in ... or alter the structure of the protein. The resulting proteins cannot be ...
