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Autosomal recessive distal titinopathy
rareA 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.
- Identifiers
- MONDO:0100495
- Part of
- Autosomal recessive titinopathy
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