Deep geno- and phenotyping in two consanguineous families with CMT2 reveals HADHA as an unusual disease-causing gene and an intronic variant in GDAP1 as an unusual mutation. (2021)

First Author: Khani M
Attributed to:  Understanding the genes for Parkinson's disease funded by MRC

Abstract

No abstract provided

Bibliographic Information

Digital Object Identifier: http://dx.doi.org/10.1007/s00415-020-10171-4

PubMed Identifier: 32897397

Publication URI: http://europepmc.org/abstract/MED/32897397

Type: Journal Article/Review

Volume: 268

Parent Publication: Journal of neurology

Issue: 2

ISSN: 0340-5354