Condition: SPASTIC PARAPLEGIA 2, X-LINKED (disorder)
rs132630287 in
PLP1;RAB9B gene and
SPASTIC PARAPLEGIA 2, X-LINKED (disorder)
PMID 10319897 1999 Novel exon 3B proteolipid protein gene mutation causing late-onset spastic paraplegia type 2 with variable penetrance in female family members.
PMID 8780101 1996 Refined genetic mapping and proteolipid protein mutation analysis in X-linked pure hereditary spastic paraplegia.
PMID 8956049 1996 A novel mutation in exon 6 (F236S) of the proteolipid protein gene is associated with spastic paraplegia.
PMID 9489796 1998 X-linked spastic paraplegia due to a mutation (C506T; Ser169Phe) in exon 4 of the proteolipid protein gene (PLP).
PMID 17438221 2007 Steroid-responsive neurologic relapses in a child with a proteolipid protein-1 mutation.
PMID 24103481 2014 A novel mutation in PLP1 causes severe hereditary spastic paraplegia type 2.
PMID 7522741 1994 The rumpshaker mutation in spastic paraplegia.
PMID 8012387 1994 X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus.
PMID 15450775 2004 A case of complicated spastic paraplegia 2 due to a point mutation in the proteolipid protein 1 gene.
PMID 11093273 2000 Genotype-phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations. Clinical European Network on Brain Dysmyelinating Disease.
PMID 12601703 2003 Schwann cell expression of PLP1 but not DM20 is necessary to prevent neuropathy.
PMID 16287154 2006 Splice-site contribution in alternative splicing of PLP1 and DM20: molecular studies in oligodendrocytes.
PMID 7531827 1995 A novel mutation in exon 3 of the proteolipid protein gene in Pelizaeus-Merzbacher disease.
rs132630288 in
RAB9B;PLP1 gene and
SPASTIC PARAPLEGIA 2, X-LINKED (disorder)
PMID 10319897 1999 Novel exon 3B proteolipid protein gene mutation causing late-onset spastic paraplegia type 2 with variable penetrance in female family members.
PMID 17438221 2007 Steroid-responsive neurologic relapses in a child with a proteolipid protein-1 mutation.
PMID 8780101 1996 Refined genetic mapping and proteolipid protein mutation analysis in X-linked pure hereditary spastic paraplegia.
PMID 8956049 1996 A novel mutation in exon 6 (F236S) of the proteolipid protein gene is associated with spastic paraplegia.
PMID 24103481 2014 A novel mutation in PLP1 causes severe hereditary spastic paraplegia type 2.
PMID 8012387 1994 X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus.
PMID 9489796 1998 X-linked spastic paraplegia due to a mutation (C506T; Ser169Phe) in exon 4 of the proteolipid protein gene (PLP).
PMID 15450775 2004 A case of complicated spastic paraplegia 2 due to a point mutation in the proteolipid protein 1 gene.
PMID 11093273 2000 Genotype-phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations. Clinical European Network on Brain Dysmyelinating Disease.
PMID 7522741 1994 The rumpshaker mutation in spastic paraplegia.
PMID 9056547 1997 Nonsense mutation in exon 3 of the proteolipid protein gene (PLP) in a family with an unusual form of Pelizaeus-Merzbacher disease.