A truncating variant altering the extreme C-terminal region of desmoplakin (DSP) suggests the crucial functional role of the region: a case report study

• Main Authors: Malena P. Pantou (Author), Polyxeni Gourzi (Author), Vasiliki Vlagkouli (Author), Efstathios Papatheodorou (Author), Alexandros Tsoutsinos (Author), Eva Nyktari (Author), Dimitrios Degiannis (Author), Aris Anastasakis (Author)
• Format: Book
• Published: BMC, 2023-05-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Homozygous truncating mutations located in the C-terminal region of the desmoplakin gene (DSP) are known to mainly cause Carvajal syndrome, an autosomal recessive syndromic form of arrhythmogenic cardiomyopathy with an extra-cardiac cutaneous phenotype. Case presentation Here we...