Variability in Disease Severity in Siblings With Homozygous Missense Variant of ADSSL1: Clinical Genetic Study and Review of Literatures.

Abstract excerpt

BACKGROUND: Distal myopathies are genetic muscle disorders caused by mutations in various genes. A study found that mutations in adenylosuccinate synthetase-like 1 (ADSSL1) are associated with distal myopathy in nine patients from six unrelated families in South Korea. Previous research showed that affected individuals experienced distal muscle weakness starting in adolescence, along with mild facial muscle...

Topics

Join the communities discussing this publication.

• Child
• Distal Myopathies
• Homozygote
• Inflammatory Myopathies and Dermatomyositis
• Mutation, Missense