Résumé
We reported an age 32 male with progressive proximal muscle weakness. The serum creatine kinase was 1,908 IU/L. The muscle biopsy from biceps brachii muscle showed nonspecific myopathic changes. The whole exome sequencing identified a heterozygous variant (c.296A>C) in CAV3. It was previously reported as a likely pathogenic variant. It was also detected in the male’s mother and brother. However, his mother and brother had only hyperCKemia without muscle weakness. Our case showed phenotypic heterogeneity in a family, with the same variant in CAV3.
Résumé
OBJECTIVES: Increasing evidence suggests the presence of neurobiological bases for temperamental characteristics in humans. Brain correlates of harm avoidance(HA) have been most extensively studied using functional and structural brain imaging methods due to its potential link with anxiety and depressive disorders. To date, however, we are not aware of any reports that have examined the potential relationship between HA levels and regional cortical thickness. The aim of the current study is to examine the cortical thickness which is associated with HA temperament in healthy young subjects. METHODS: Twenty-eight young, healthy individuals(13 men and 15 women, mean age, 29.4 +/- 6.3 years) were screened for eligibility and administered the Korean version of the Cloninger's Temperament and Character Inventory and underwent high-resolution structural magnetic resonance imaging scanning. RESULTS: HA was associated with cortical thickness in the right superior frontal cortex and in the left parietal cortex, adjusted for age and sex and corrected for multiple comparisons using the permutation testing method. CONCLUSION: Individual temperamental differences in HA are associated with structural variations in specific areas of the brain. The fact that these brain regions are involved in top-down modulations of subcortical fear reactions adds functional significance to current findings.