LGMD2I is autosomal recessive and caused by mutations in which gene?

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Multiple Choice

LGMD2I is autosomal recessive and caused by mutations in which gene?

Explanation:
Mutations in the FKRP gene cause the LGMD type 2I form of muscular dystrophy, and this condition follows an autosomal recessive inheritance pattern. FKRP encodes fukutin-related protein, which is involved in the proper glycosylation of alpha-dystroglycan. When glycosylation is defective, alpha-dystroglycan cannot efficiently connect the muscle cell membrane to the extracellular matrix, making muscle fibers more prone to damage and flexing the limb-girdle weakness characteristic of this type. The other genes listed correspond to different LGMD subtypes: CAPN3 mutations lead to LGMD type 2A, DYSF mutations to LGMD type 2B, and SGCA mutations to LGMD type 2D.

Mutations in the FKRP gene cause the LGMD type 2I form of muscular dystrophy, and this condition follows an autosomal recessive inheritance pattern. FKRP encodes fukutin-related protein, which is involved in the proper glycosylation of alpha-dystroglycan. When glycosylation is defective, alpha-dystroglycan cannot efficiently connect the muscle cell membrane to the extracellular matrix, making muscle fibers more prone to damage and flexing the limb-girdle weakness characteristic of this type.

The other genes listed correspond to different LGMD subtypes: CAPN3 mutations lead to LGMD type 2A, DYSF mutations to LGMD type 2B, and SGCA mutations to LGMD type 2D.

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