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amyotrophic lateral sclerosis type 28
Summary
- 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.
- Super Class
- amyotrophic lateral sclerosis autosomal dominant disease
External Links
- Disease Ontology
- DOID:0081382
- Mondo Disease Ontology
- OMIM
