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  1. A Rare Genetic Disease in Which Symptoms Naturally Improve

A Rare Genetic Disease in Which Symptoms Naturally Improve

Lia Abbasi-Moheb et al.
December 22, 2020

Biallelic loss-of-function HACD1 variants are a bona fide cause of congenital myopathy

While most genetic disorders progress from mild to severe, a certain form of muscle disease was suggested to represent an exception. However, this was based on observations in only two patients. As a result of identifying three additional patients, scientists at CENTOGENE have now been able to confirm the unusual phenomenon of genetically determined symptoms improving over time. A study outlining these findings was published in Clinical Genetics.