Glossary
Mutation
Any alteration in a gene from its natural state; may be disease related or a benign, normal variant.
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Allelic mutations
Different forms of defect influence a same gene. They could bring completely distinct effects, though the same gene is dysfunctional.
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Dominant mutation
A genetic defects that is always expressed, even if only one copy of the mutant is present.
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Recessive mutation
a genetic defect requires the presence of two copies (both on maternal & paternal) otherwise it is unable to give observable phenotype.
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Ion channels
membrane integral proteins that form aqua pores to allow one/certain kind of ions passby.
they may not open all the time. some channels open randomly, some channels are close until binding of specific ligands (ligand-denpendent), and some channels dependent on membrane potential for the...
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Neuromuscular junction
A motor neuron located in the spinal cord sends its axon to a skeletal muscle fiber. The axon makes a single point of contact with the sarcolemma. This synaptic region is called the neuromuscular junction or the end plate.
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Sarcolemma
The cell membrane of a skeletal muscle fiber
The terms skeletal muscle fiber and skeletal muscle cell are interchangeable. People keep the former name because mature skeletal muscle cells are formed by diffused progenitor cells. They are different from a ‘typical’ cell, as they are...
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Symptoms
a physical or mental feature which is regarded as indicating a condition of disease.
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Electromyogram
the result prduced by a technique called electromyography (EMG).
it is used to record and evaluate the activition signal of muscles.
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