Integrating D4Z4 methylation analysis into clinical practice: improvement of FSHD molecular diagnosis through distinct thresholds for 4qA/4qA and 4qA/4qB patients
Clin Epigenetics. 2024 Oct 22;16(1):148. doi: 10.1186/s13148-024-01747-2. ABSTRACT BACKGROUND: Facioscapulohumeral dystrophy (FSHD) is a myopathy characterized by the loss of repressive epigenetic features affecting the …