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Metadata
ID DOID:0061132
Name autosomal recessive limb-girdle muscular dystrophy type 23
Definition An autosomal recessive limb-girdle muscular dystrophy characterized by slowly progressive proximal muscle weakness primarily affecting the lower limbs and resulting in gait difficulties that has_material_basis_in y homozygous or compound heterozygous mutation in the LAMA2 gene on chromosome 6q22.
https://pubmed.ncbi.nlm.nih.gov/24957499/
Xrefs

MIM:618138

SKOS

exactMatch MIM:618138

Synonyms

LGMDR23 [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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