Myopathy, congenital, progressive, with scoliosis
Your Results
Sign InDescription
Progressive congenital myopathy with scoliosis (MYOSCO) is an autosomal recessive skeletal muscle disorder characterized by infantile-onset of progressive muscle weakness and atrophy associated with scoliosis, variably impaired walking, and dysmorphic facial features (Feichtinger et al., 2019).
Mode of Inheritance
- Autosomal recessive inheritance
VARIANTS
7