Metachromatic Leukodystrophy Variants

J Gordon Millichap

doi:10.15844/pedneurbriefs-7-8-8

Metachromatic Leukodystrophy Variants

Pediatric Neurology Briefs

Volume 7 (1993): Issue 8

By: J Gordon Millichap

Open Access

|Aug 1993

Abstract

Clinical, pathological, imaging, and genetic findings in a family with multiple allelic mutations of metachromatic leukodystrophy (MLD) are reported from McGill University, Montreal, and McMaster University, Hamilton, Canada.

References

Francis GS Bonni A Shen N Hechtman P Yamut B Carpenter S Metachromatic leukodystrophy: multiple nonfunctional and pseudodeficiency alleles in a pedigree: problems with diagnosis and counseling Ann Neurol 1993 Aug 34 2 212 218 10.1002/ana.410340218 8101704
Open DOI Search in Google Scholar Back to article

Articles in this issue

DOI: https://doi.org/10.15844/pedneurbriefs-7-8-8 | Journal eISSN: 2166-6482

Journal RSS Feed

Language: English

Page range: 62 - 63

Published on: Aug 1, 1993

Published by: Pediatric Neurology Briefs Publishers

In partnership with: Paradigm Publishing Services

Keywords:

Metachromatic Leukodystrophy,

Pseudodeficiency,

Allelic Mutations

© 1993 J Gordon Millichap, published by Pediatric Neurology Briefs Publishers
This work is licensed under the Creative Commons Attribution 4.0 License.

Volume 7 (1993): Issue 8