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The complement system, also known as complement cascade, is a part of the humoral, innate immune system and enhances (complements) the ability of antibodies and phagocytic cells to clear microbes and damaged cells from an organism, promote inflammation, and attack the pathogen 's cell membrane. [1] Despite being part of the innate immune system ...
The alpha2 chain is shown in red. LAMA2 muscular dystrophy (LAMA2-MD) is a genetically determined muscle disease caused by pathogenic mutations in the LAMA2 gene. It is a subtype of a larger group of genetic muscle diseases known collectively as congenital muscular dystrophies. The clinical presentation of LAMA2 -MD varies according to the age ...
Protein 4.2. Erythrocyte membrane protein band 4.2 is a protein that in humans is encoded by the EPB42 gene. [5] [6] It is part of the red blood cell cytoskeleton . Erythrocyte membrane protein band 4.2 is an ATP-binding protein which may regulate the association of band 3 with ankyrin. It probably has a role in erythrocyte shape and mechanical ...
Mexiletine, carbamazepine, tricyclic antidepressants, nonsteroidal anti inflammatory drugs [2] Frequency. >1 in 8,000 people [1] Myotonic dystrophy (DM) is a type of muscular dystrophy, a group of genetic disorders that cause progressive muscle loss and weakness. [1] In DM, muscles are often unable to relax after contraction. [1]
Congenital muscular dystrophies (CMDs) are autosomal recessively inherited, except in some cases of de novo gene mutation and Ullrich congenital muscular dystrophy. [8][9] This means that in most cases, both parents must be carriers of a CMD gene in order for it to be inherited. CMDs are heterogenous and thus far there have been 35 genes ...
deltoid means triangular; quadratus means having four sides; rhomboideus means having a rhomboid shape; teres means round or cylindrical, trapezius means having a trapezoid shape, rectus means straight. Examples are the pronator teres, the pronator quadratus and the rectus abdominis. [13] By action.
H2.00.06.1.02001. FMA. 61803. Anatomical terminology. [edit on Wikidata] A neuromuscular junction (or myoneural junction) is a chemical synapse between a motor neuron and a muscle fiber. [1] It allows the motor neuron to transmit a signal to the muscle fiber, causing muscle contraction. [2]
Androgen insensitivity syndrome (AIS) is a condition involving the inability to respond to androgens, typically due to androgen receptor dysfunction. [1] It affects 1 in 20,000 to 64,000 XY (karyotypically male) births. The condition results in the partial or complete inability of cells to respond to androgens. [2]