Case Report: Advanced Skeletal Muscle Imaging in S-Adenosylhomocysteine Hydrolase Deficiency and Further Insight Into Muscle Pathology

• Main Authors: Danijela Petković Ramadža (Author), Ivana Kuhtić (Author), Kamelija Žarković (Author), Hanns Lochmüller (Author), Mislav Čavka (Author), Ida Kovač (Author), Ivo Barić (Author), Maja Prutki (Author)
• Format: Book
• Published: Frontiers Media S.A., 2022-04-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

IntroductionS-Adenosylhomocysteine hydrolase deficiency (SAHHD) is a rare inherited multisystemic disease with muscle involvement as one of the most prominent and poorly understood features. To get better insight into muscle involvement, skeletal muscles were analyzed by magnetic resonance imaging (...