Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0002736 (
amyotrophic lateral sclerosis
)
19,048
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Mutations in the
SPG3A
gene represent a significant cause of autosomal dominant hereditary spastic paraplegia with early onset and pure phenotype. We describe an Italian family manifesting a complex phenotype, characterized by cerebellar involvement in the proband and
amyotrophic lateral sclerosis
-like syndrome in her father, in association with a new mutation in
SPG3A
. Our findings further widen the notion of clinical heterogeneity in
SPG3A
mutations.
...
PMID:Complex phenotype in an Italian family with a novel mutation in SPG3A. 1976 83
