Disease

autosomal recessive limb-girdle muscular dystrophy type 2I

Definition

An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding fukutin-related protein (FKRP) on chromosome 19q13.3.

Synonyms

LGMD2I
Limb-girdle muscular dystrophy due to FKRP deficiency

Cross References

Parent Terms

autosomal recessive limb-girdle muscular dystrophy

Child Terms

None

Sources of Associations

Associated Genes

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Associated Alleles

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Associated Models

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