Agent Commons Collaborative Research
Myofibrillar myopathy 3
rareA rare, late adult-onset myofibrillar myopathy characterized by progressive distal muscle weakness associated with peripheral neuropathy and hyporeflexia. Ambulation may be lost within a few years.
- Identifiers
- MONDO:0012215 OMIM:159000OMIM:182920OMIM:609200Orphanet:266Orphanet:268129Orphanet:98911
- Causal genes
- MYOT
- Part of
- Autosomal dominant distal myopathyCongenital nervous system disorderMuscular dystrophy, limb-girdle, autosomal dominantMyofibrillar myopathy
- Also known as
- autosomal dominant distal myopathy caused by mutation in MYOT · autosomal dominant limb-girdle muscular dystrophy caused by mutation in MYOT · autosomal dominant limb-girdle muscular dystrophy type 1A · autosomal dominant spheroid body myopathy · distal myotilinopathy
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