Article
High frequency of GJA12/GJC2 mutations in Turkish patients with Pelizaeus-Merzbacher disease.
Clinical genetics - 1 Jan 2013
Bilir B, Yapici Z, Yalcinkaya C, Baris I, Carvalho C M B, Bartnik M, Ozes B, Eraksoy M, Lupski J R, Battaloglu E
Abstract excerpt
Pelizaeus-Merzbacher disease is an early onset dysmyelinating leukodystrophy. About 80% of PMD cases have been associated with duplications and mutations of the proteolipid protein 1 (PLP1) gene. Pelizaeus-Merzbacher-like disease is a genetically heterogeneous autosomal recessive disease and rarely caused by mutations in gap junction protein α12 (GJA12/GJC2) gene. The molecular basis of the disease was...
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