Key result
Homozygous loss-of-function mutations in SVIL cause a distinctive novel myopathy characterized by wide neck, anteverted shoulders, prominent trapezius muscles, and myofibrillar disorganization.
Why the study?
Despite its role in muscle cell physiology, there were no prior reports of any human disease caused by SVIL mutations.
Population
Four patients from two unrelated, consanguineous families with childhood/adolescence onset myopathy
Design
Case series
Authors
Loading...
SVIL testing may aid diagnosis in matching myopathy cases; leaves open prevalence, mechanisms, and therapies.
Case Report (n=4)
This study provides the first evidence that recessive loss-of-function mutations in the SVIL gene cause a novel structural myopathy in humans.
Hedberg‐Oldfors et al. (2020) conducted a case report in Myopathy (n=4). Homozygous loss-of-function mutations in SVIL was evaluated on Clinical and histological features of myopathy. Homozygous loss-of-function mutations in SVIL cause a distinctive novel myopathy characterized by wide neck, anteverted shoulders, prominent trapezius muscles, and myofibrillar disorganization.
Synapse has enriched 4 closely related papers on similar clinical questions. Consider them for comparative context: