Hypomyelinating Leukodystrophy 2 is an autosomal recessive neurological disorder caused by mutations of the GJC2 gene.
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Uhlenberg B et al. (2004) Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease. |
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Wolf NI et al. (2007) Frameshift mutation in GJA12 leading to nystagmus, spastic ataxia and CNS dys-/demyelination. |
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Salviati L et al. (2007) A novel deletion in the GJA12 gene causes Pelizaeus-Merzbacher-like disease. |
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Henneke M et al. (2008) GJA12 mutations are a rare cause of Pelizaeus-Merzbacher-like disease. |
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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. |
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Gotoh L et al. (2014) GJC2 promoter mutations causing Pelizaeus-Merzbacher-like disease. |
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Bugiani M et al. (2006) GJA12 mutations in children with recessive hypomyelinating leukoencephalopathy. |
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Henneke M et al. (2010) Clinical neurophysiology in GJA12-related hypomyelination vs Pelizaeus-Merzbacher disease. |
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Orphanet article Orphanet ID 280282 |
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OMIM.ORG article Omim 608804 |