autosomal recessive distal titinopathy
MONDO:0100495Mondo
Findings
No curated finding names autosomal recessive distal titinopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0100495), read 2026-09-29. CC BY 4.0.
Where it sits
- A kind of