Hypomyelinisierte Leukodystrophy 2
die Hypomyelinisierte Leukodystrophy 2 ist eine autosomal rezessive neurologische Erkrankung, die durch Mutationen im GJC2-Gen hervorgerufen wird.
Gliederung
Referenzen:
| 1. |
Uhlenberg B et al. (2004) Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease. [^] |
| 2. |
Wolf NI et al. (2007) Frameshift mutation in GJA12 leading to nystagmus, spastic ataxia and CNS dys-/demyelination. [^] |
| 3. |
Salviati L et al. (2007) A novel deletion in the GJA12 gene causes Pelizaeus-Merzbacher-like disease. [^] |
| 4. |
Henneke M et al. (2008) GJA12 mutations are a rare cause of Pelizaeus-Merzbacher-like disease. [^] |
| 5. |
Biancheri R et al. (2013) Expanded spectrum of Pelizaeus-Merzbacher-like disease: literature revision and description of a novel GJC2 mutation in an unusually severe form. [^] |
| 6. |
Gotoh L et al. (2014) GJC2 promoter mutations causing Pelizaeus-Merzbacher-like disease. [^] |
| 7. |
Bugiani M et al. (2006) GJA12 mutations in children with recessive hypomyelinating leukoencephalopathy. [^] |
| 8. |
Henneke M et al. (2010) Clinical neurophysiology in GJA12-related hypomyelination vs Pelizaeus-Merzbacher disease. [^] |
| 9. |
Orphanet article Orphanet ID 280282 [^] |
| 10. |
OMIM.ORG article Omim 608804 [^] |
