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GENATLAS PHENOTYPE

last update : 22-05-2017

Symbol	PMLD4
Location	19q13.12
Name	Pelizaeus-Merzbacher-like disease 4
Corresponding gene	MAG
Main clinical features	typical infantile-onset Pelizaeus-Merzbacher disease-like phenotype slowly evolving into a form of complicated hereditary spastic paraplegia with mental retardation, dysarthria, optic atrophy and peripheral neuropathy in adulthood magnetic resonance imaging and spectroscopy were consistent with a demyelinating leukodystrophy
Genetic determination	autosomal recessive
Function/system disorder	neurology
Type	disease

Remark(s)

. in contrast to the wild-type protein, the p.S133R mutant was retained in the endoplasmic reticulum and was subjected to endoplasmic reticulum-associated protein degradation by the proteasome (PMID: 26179919))