Mutations in RARS cause a hypomyelination disorder akin to Pelizaeus–Merzbacher disease

Author:

Nafisinia Michael,Sobreira Nara,Riley Lisa,Gold Wendy,Uhlenberg Birgit,Weiß Claudia,Boehm Corinne,Prelog Kristina,Ouvrier Robert,Christodoulou John

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Reference44 articles.

1. Lossos A, Elazar N, Lerer I et al: Myelin-associated glycoprotein gene mutation causes Pelizaeus-Merzbacher disease-like disorder. Brain 2015; 138: 2521–2536.

2. Brender T, Wallerstein D, Sum J, Wallerstein R : Unusual presentation of Pelizaeus-Merzbacher disease: female patient with deletion of the proteolipid protein 1 gene. Case Rep Genet 2015; 2015: 453105.

3. Golomb MR, Walsh LE, Carvalho KS, Christensen CK, DeMyer WE : Clinical findings in Pelizaeus-Merzbacher disease. J Child Neurol 2004; 19: 328–331.

4. Sima AA, Pierson CR, Woltjer RL et al: Neuronal loss in Pelizaeus-Merzbacher disease differs in various mutations of the proteolipid protein 1. Acta Neuropathol 2009; 118: 531–539.

5. Xia J, Wang L : Pelizaeus-Merzbacher disease: molecular diagnosis and therapy. Intractable Rare Dis Res 2013; 2: 103–105.

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