A novel case of MSTO1 gene related congenital muscular dystrophy with progressive neurological involvement

Congenital muscular dystrophies (CMDs) and congenital myopathies (CMs) are individually rare and highly heterogeneous conditions, characterized by congenital/early onset muscle weakness and characteristic muscle biopsy findings compatible with a dystrophic or myopathic process, respectively. The clinical complexity of CMDs and CMs is mirrored by their wide genetic heterogeneity. With advances in novel diagnostic genetic technologies such as the introduction of next generation sequencing (NGS), the number of genes and disease-causing variants associated with CMDs and CMs has rapidly increased in recent years [1].

Source: Neuromuscular Disorders - March 26, 2019 Category: Neurology Authors: Didem Ardicli, Anna Sarkozy, Irina Zaharieva, Charu Deshpande, Istvan Bodi, Ata Siddiqui, Jean Marie U-King-Im, Amy Selfe, Rahul Phadke, Heinz Jungbluth, Francesco Muntoni Source Type: research