Elucidation of the Genetic Cause in Dutch Limb Girdle Muscular Dystrophy Families: A 27-Year's Journey.

ABSTRACT:

Background

A Dutch cohort of 105 carefully selected limb girdle muscular dystrophy (LGMD) patients from 68 families has been subject to genetic testing over the last 20 years. After subsequent targeted gene analysis around two thirds (45/68) of the families had received a genetic diagnosis in 2013.

Objective

To describe the results of further genetic testing in the remaining undiagnosed limb girdle muscular dystrophy families in this cohort.

Methods

In the families of the cohort for whom no genetic diagnosis was established (n = 23) further testing using Sanger sequencing, next generation sequencing with gene panel analysis or whole-exome sequencing was performed. In one case DNA analysis for facioscapulohumeral dystrophy type 1 was carried out.

Results

In eigh

SUBMITTER: Ten Dam L 

PROVIDER: S-EPMC9789482 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature