Metadata | |
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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 | |
SKOS |
exactMatch MIM:618138 |
Synonyms |
LGMDR23 [EXACT] |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |