Clinical characteristics of muscle cramps in hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome associated with a novel COL4A1 pathogenic variant: A family case study.
Shunsuke HagaRyo TakeguchiRyosuke TanakaAkira SatakeYoshio MakitaKumiko YanagiTadashi KanameSatoru TakahashiPublished in: Brain & development (2023)
Recognition of the clinical characteristics of the muscle cramps in the HANAC syndrome may facilitate early diagnosis of the syndrome and enable proper treatment of the patients, improve their long-term outcomes, and facilitate the design and adaption of appropriate genetic counseling.