Limb girdle muscular dystrophies (LGMD) represent an increasingly large and heterogeneous group of autosomal dominant and recessive disorders. In many patients, the molecular origin remains unknown and next generation sequencing has become a very important tool to hasten the genetic diagnosis and to identify variants and mutations in genes not previously associated with LGMD. Here, we report an adult female patient with autosomal recessive LGMD (LGMD2), in whom exome sequencing by inclusion in the MYO-SEQ project (Newcastle upon-Tyne, UK) revealed a homozygous substitution in DPM3, encoding dolichol-P-mannose (DPM) synthase subunit 3.

Read More...

Leave a comment.

Your email address will not be published. Required fields are marked*

Andoird App
Loading...