Malrotation: Abnormal rotation of all or part of an organ, such as the small intestines.
Microtubule: A rod-like structure that in a normal Cilium exists as an array of 9 doublets arranged in an outer circle around a central pair.
Middle Ear: A narrow air-filled space between the Tympanic Membrane (ear drum) and inner ear which contains the three small bones that conduct sounds.
Missense Mutation: A change in one DNA Base Pair that changes a codon into a codon corresponding to a different amino acid.
Molecular Genetic Testing: (synonyms - DNA testing, DNA-based testing, molecular testing) Testing that involves the analysis of DNA, either through Linkage Analysis, sequencing, or one of several methods of mutation detection.
Mucociliary Clearance: The mechanical elimination of fluid, bacteria, and particulates from the respiratory tract, relying on the close coordination of ciliary function, airway surface fluid secretion, and mucin secretion.
Mutation: (synonyms - sequence alteration, splicing mutation) Any alteration in a gene from its natural state; may be disease-causing or a benign, normal variant.
Mutation Analysis: (synonym - targeted mutation analysis) Testing for the presence of a specific mutation (e.g., Glu6Val for sickle cell anemia), a specific type of mutation (e.g., the trinucleotide repeat expansion associated with spinocerebellar ataxia type 1, Deletions associated with Duchenne muscular dystrophy), or set of mutations (e.g., a panel of mutations for cystic fibrosis), as opposed to complete gene sequencing or mutation scanning, which detect most mutations in the tested region.
Mutation Screening (Mutational Profiling): A process by which a segment of DNA is screened via one of a variety of methods to identify variant gene region(s). Variant regions are further analyzed (by sequence analysis or mutation analysis) to identify the sequence alteration.