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Mutations in myosin V cause a human disorder known as ________, involving partial albinism and neurological defects.

User Camille R
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Final answer:

Mutations in myosin V cause Griscelli syndrome, involving partial albinism and neurological defects, differing from muscular dystrophies like Duchenne muscular dystrophy which causes progressive muscle weakness.

Step-by-step explanation:

Mutations in myosin V cause a human disorder known as Griscelli syndrome, which involves partial albinism and neurological defects. This syndrome is different from the more commonly known muscular dystrophies, such as Duchenne muscular dystrophy (DMD), which is a progressive weakening of the skeletal muscles due to a lack of the protein dystrophin. Unlike disorders solely characterized by neuromuscular degeneration, Griscelli syndrome encompasses problems with pigmentation as well as with the nervous system and muscle control. The condition affecting pigmentation relates to the function of melanocytes and the production of melanin, which is impaired in individuals with albinism. Those with albinism have to be protective against UV radiation and are prone to vision problems, unlike those affected by muscular dystrophy who experience progressive muscle weakness.

User Martin Wedvich
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