X-linked muscular dystrophy in a Labrador Retriever strain: phenotypic and molecular characterisation.

ABSTRACT:

Background

Canine models of Duchenne muscular dystrophy (DMD) are a valuable tool to evaluate potential therapies because they faithfully reproduce the human disease. Several cases of dystrophinopathies have been described in canines, but the Golden Retriever muscular dystrophy (GRMD) model remains the most used in preclinical studies. Here, we report a new spontaneous dystrophinopathy in a Labrador Retriever strain, named Labrador Retriever muscular dystrophy (LRMD).

Methods

A colony of LRMD dogs was established from spontaneous cases. Fourteen LRMD dogs were followed-up and compared to the GRMD standard using several functional tests. The disease causing mutation was studied by several molecular techniques and identified using RNA-sequencing.

Results

The main clinic

SUBMITTER: Barthelemy I 

PROVIDER: S-EPMC7412789 | biostudies-literature | 2020 Aug

REPOSITORIES: biostudies-literature