Genotype-phenotype correlations and expansion of the molecular spectrum of AP4M1-related hereditary spastic paraplegia - Concepedia

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Publication | Open Access

Genotype-phenotype correlations and expansion of the molecular spectrum of AP4M1-related hereditary spastic paraplegia

DOI Full Paper Access

21

Citations

16

References

2017

Year

Conceição Bettencourt, Vincenzo Salpietro, Stéphanie Efthymiou, Viorica Chelban, Deborah Hughes, Alan Pittman, Monica Federoff, Thomas Bourinaris, Martha Spilioti, Georgia Deretzi,

Orphanet Journal of Rare Diseases

Abstract

We review genotype-phenotype correlations and discuss clinical overlaps between different AP4-related diseases. The AP4M1 belongs to a complex that mediates vesicle trafficking of glutamate receptors, being likely involved in brain development and neurotransmission.

References

	Year	Citations

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