A novel TRAPPC11 mutation in two Turkish families associated with cerebral atrophy, global retardation, scoliosis, achalasia and alacrima

Conclusions The identified novel TRAPPC11 mutation represents an expansion of the myopathy phenotype described before and is characterised particularly by achalasia, alacrima, neurological and muscular phenotypes.
Source: Journal of Medical Genetics - Category: Genetics & Stem Cells Authors: Tags: Genetic screening / counselling, Molecular genetics, Immunology (including allergy), Muscle disease, Neuromuscular disease, Calcium and bone Genome-wide studies Source Type: research