amyotrophic lateral sclerosis type 28

Term ID

DOID:0081382

Synonyms

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/

References

• OMIM:620452

Ontology

Human Disease   ( DOID:0081382 )