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Paper Details

Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesis.
Am J Hum Genet
111
2012
1 bp frameshift TECPR2 deletion, LC3, LC3II, MAP1LC3B, SQSTM1, TECPR2, areflexia, dysmorphic features, fluctuating central hypoventilation, gastresophageal reflux disease, hereditary spastic paraparesis, intellectual disability, lipidated form, neurodegenerative diseases, p62, premature stop codon, skin fibroblasts, spastic paraparesis, wake apnea

Datasets

Release 1.2