Post Mortem Findings in a Young Male with Congenital Generalized Lipodystrophy, Type 4 due to CAVIN1 mutations.

Conclusions: Our data suggest that fibro-fatty infiltration of right ventricle may contribute to CPVT in CGL4 patients. Thick muscularis mucosa and large nerves in esophagus likely contributed to dysphagia and dysmotility. Lack of spermatids suggests infertility in the affected males. PMID: 30476128 [PubMed - as supplied by publisher]
Source: The Journal of Clinical Endocrinology and Metabolism - Category: Endocrinology Authors: Tags: J Clin Endocrinol Metab Source Type: research