What is LAMA2?

LAMA2 (laminin alpha 2) is a gene that codes for a protein that is part of the basement membrane, an important structure that connects and supports cells. Laminin alpha 2 is particularly active in the muscles and nervous system. It plays a crucial role in the development and maintenance of muscle structure and function, especially in skeletal muscles.

Mutations in the LAMA2 gene can lead to a muscle-related disease known as congenital muscular dystrophy (CMD). One of the more severe forms of this disease is laminin alpha 2 muscular dystrophy. This rare but severe form of muscular dystrophy leads to progressive muscle weakness that occurs at birth or in early childhood.

Affected children usually develop muscle weakness that worsens over time and are often dependent on assistive devices such as wheelchairs. They may also have other symptoms such as spasticity, skeletal deformities and breathing problems. The LAMA2 gene plays such an important role that its mutation has a number of serious effects on the whole body, especially the muscles and nervous system.

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