Metadata | |
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ID | DOID:0061134 |
Name | autosomal recessive limb-girdle muscular dystrophy type 29 |
Definition | An autosomal recessive limb-girdle muscular dystrophy characterized by onset of muscle weakness predominantly affecting the proximal lower limbs, although upper limb involvement also occurs that has_material_basis_in homozygous or compound heterozygous mutation in the SNUPN gene on chromosome 15q24. https://pubmed.ncbi.nlm.nih.gov/38413582/ |
Xrefs | |
SKOS |
exactMatch MIM:620793 |
Synonyms |
LGMDR29 [EXACT] |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |