| Metadata | |
|---|---|
| ID | DOID:0081382 |
| Name | amyotrophic lateral sclerosis type 28 |
| Definition | An amyotrophic lateral sclerosis that is characterized by adult onset of slowly progressive limb muscle weakness and atrophy resulting in gait difficulties, loss of ambulation, and distal upper limb weakness and that has_material_basis_in a heterozygous trinucleotide repeat expansion (CGG) in the 5-prime untranslated region of the LRP12 gene on chromosome 8q22. https://pubmed.ncbi.nlm.nih.gov/37339631/ |
| Xrefs | |
| Parent Relationships | |
| Subclass Logical Relationships |
existence starts during some Adult onset has material basis in some trinucleotide_repeat_expansion has material basis in some autosomal dominant inheritance |