A Large Family with p.Arg554His Mutation in <i>ABCD1</i>: Clinical Features and Genotype/Phenotype Correlation in Female Carriers

A Large Family with p.Arg554His Mutation in <i>ABCD1</i>: Clinical Features and Genotype/Phenotype Correlation in Female Carriers

X-linked adrenoleukodystrophy (X-ALD, OMIM #300100) is the most common peroxisomal disorder clinically characterized by two main phenotypes: adrenomyeloneuropathy (AMN) and the cerebral demyelinating form of X-ALD (cerebral ALD). The disease is caused by defects in the gene for the adenosine triphos...

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Bibliographic Details
Main Authors: Rosa Campopiano, Cinzia Femiano, Maria Antonietta Chiaravalloti, Rosangela Ferese, Diego Centonze, Fabio Buttari, Stefania Zampatti, Mirco Fanelli, Stefano Amatori, Carmelo D’Alessio, Emiliano Giardina, Francesco Fornai, Francesca Biagioni, Marianna Storto, Stefano Gambardella
Format: Article
Language:English
Published: MDPI AG 2021-05-01
Series:Genes
Subjects:
neurogenetics
X-linked adrenoleukodystrophy
<i>ABCD1</i>
next generation sequencing
diagnosis
Online Access:https://www.mdpi.com/2073-4425/12/5/775

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https://www.mdpi.com/2073-4425/12/5/775

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