LGMD2I is caused by mutations in which gene?

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Prepare for the Muscular Dystrophy Test with comprehensive flashcards and multiple-choice questions. Access detailed hints and explanations for each question to enhance your study experience. Equip yourself for success on your upcoming exam!

Multiple Choice

LGMD2I is caused by mutations in which gene?

Explanation:
Mutations in FKRP cause LGMD type 2I. FKRP encodes fukutin-related protein, which is involved in the glycosylation of alpha-dystroglycan. Proper glycosylation of alpha-dystroglycan is essential for linking the muscle cell membrane to the extracellular matrix; when FKRP is defective, this connection weakens, leading to the proximal muscle weakness seen in LGMD2I. This form is typically inherited in an autosomal recessive pattern. The other genes listed are linked to different muscular dystrophies: DMD encodes dystrophin (Duchenne/Becker muscular dystrophy), LAMA2 encodes merosin (alpha2-laminin) associated with MDC1A, and COL6A1 encodes collagen VI (Ullrich/Bethlem myopathy).

Mutations in FKRP cause LGMD type 2I. FKRP encodes fukutin-related protein, which is involved in the glycosylation of alpha-dystroglycan. Proper glycosylation of alpha-dystroglycan is essential for linking the muscle cell membrane to the extracellular matrix; when FKRP is defective, this connection weakens, leading to the proximal muscle weakness seen in LGMD2I. This form is typically inherited in an autosomal recessive pattern.

The other genes listed are linked to different muscular dystrophies: DMD encodes dystrophin (Duchenne/Becker muscular dystrophy), LAMA2 encodes merosin (alpha2-laminin) associated with MDC1A, and COL6A1 encodes collagen VI (Ullrich/Bethlem myopathy).

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