Childhood onset limb-girdle muscular dystrophies in the Aegean part of Turkey.

We report one novel frameshifting mutation in TTN. Knowledge on frequencies of childhood-onset limb-girdle muscular dystrophies and related genes in Turkey will lead to a prompt diagnosis of these neuromuscular disorders.
PMID: 30838351 [PubMed - in process]

Source: Acta Myologica - March 7, 2019 Category: Neurology Tags: Acta Myol Source Type: research