Life-threatening muscle complications of COL4A1-related disorder

We report the case of a 2-year-old boy with porencephaly, who harbored a de novo COL4A1 mutation of c.1853G  > A, p. (Gly618Glu) and exhibited recurrent rhabdomyolysis with viral or bacterial infections. Moreover, he developed obstructive hypertrophic cardiomyopathy which required surgical intervention.

Source: Brain and Development - September 17, 2019 Category: Neurology Authors: Satomi Okano, Sorachi Shimada, Ryosuke Tanaka, Akie Okayama, Aya Kajihama, Nao Suzuki, Koichi Nakau, Satoru Takahashi, Naomichi Matsumoto, Hirotomo Saitsu, Jantima Tanboon, Ichizo Nishino, Hiroshi Azuma Tags: Case Report Source Type: research