Phenotypic variation between siblings with Metachromatic Leukodystrophy

Phenotypic variation between siblings with Metachromatic Leukodystrophy

Abstract Background Metachromatic Leukodystrophy (MLD) is a rare autosomal-recessive lysosomal storage disorder caused by mutations in the ARSA gene. While interventional trials often use untreated siblings as controls, the genotype-phenotype correlation is only partly understood, and the variabilit...

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Bibliographic Details
Main Authors: Saskia Elgün, Jakob Waibel, Christiane Kehrer, Diane van Rappard, Judith Böhringer, Stefanie Beck-Wödl, Jennifer Just, Ludger Schöls, Nicole Wolf, Ingeborg Krägeloh-Mann, Samuel Groeschel
Format: Article
Language:English
Published: BMC 2019-06-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Metachromatic leukodystrophy
Siblings
Genotype
Natural course
Genetics
Online Access:http://link.springer.com/article/10.1186/s13023-019-1113-6

Internet

http://link.springer.com/article/10.1186/s13023-019-1113-6

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