Condition: PAGET DISEASE OF BONE 2, EARLY-ONSET


rs796051870 in SQSTM1 gene and PAGET DISEASE OF BONE 2, EARLY-ONSET PMID 26208961 2015 SQSTM1 splice site mutation in distal myopathy with rimmed vacuoles.

PMID 26627873 2016 Targeted next-generation sequencing assay for detection of mutations in primary myopathies.

PMID 17129171 2007 Paget's disease of bone in the French population: novel SQSTM1 mutations, functional analysis, and genotype-phenotype correlations.

PMID 23417734 2013 Mutations in SQSTM1 encoding p62 in amyotrophic lateral sclerosis: genetics and neuropathology.

PMID 12374763 2002 Domain-specific mutations in sequestosome 1 (SQSTM1) cause familial and sporadic Paget's disease.