autosomal recessive distal titinopathy
A rare myopathy characterized by weakness of the muscles of the anterior compartment of lower limbs. Described as a more severe tibial muscular dystrophy phenotype, distal titinopathy is associated with earlier onset and progression to include soleus muscle and proximal muscles.
MONDO:0100493
autosomal recessive titinopathy
is_a
distal titinopathy
broad