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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

MIM:620452

Parent Relationships

is_a amyotrophic lateral sclerosis

is_a autosomal dominant disease

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