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Metadata
ID DOID:0061133
Name autosomal recessive limb-girdle muscular dystrophy type 27
Definition An autosomal recessive limb-girdle muscular dystrophy characterized by progressive muscle weakness primarily affecting the lower limbs and resulting in walking difficulty or loss of ambulation that has_material_basis_in homozygous or compound heterozygous mutation in the JAG2 gene on chromosome 14q32.
https://pubmed.ncbi.nlm.nih.gov/33861953/
Xrefs

MIM:619566

SKOS

exactMatch MIM:619566

Synonyms

LGMDR27 [EXACT]

Parent Relationships

is_a autosomal recessive limb-girdle muscular dystrophy

Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

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