Congenital myopathies: general and ryr1

Congenital myopathies affect children and adults in all populations. They are genetically and clinically heterogeneous with a marked variability in severity and disease progression, and patients can manifest additional non-muscle features affecting different tissues. We established a clinically homogeneous cohort of patients with a severe condition characterized by fetal hypokinesia, neonatal hypotonia, respiratory distress, arthrogryposis, and congenital bone fractures, and all deceased shortly after birth.
Source: Neuromuscular Disorders - Category: Neurology Authors: Source Type: research