myofibrillar myopathy 4
Findings
No curated finding names myofibrillar myopathy 4 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Late-onset distal myopathy, Markesbery-Griggs type is a rare, genetic, non-dystrophic myofibrillar myopathy disorder characterized by late-adult onset of distal and/or proximal limb muscle weakness with initial involvement of posterior lower leg muscles, medial gastrocnemius and soleus. Patients present with ankle weakness followed by weakness of finger and wrist extensors and later on of proximal muscles. Ambulation is usually preserved. Late-onset associated cardiomyopathy and/or neuropathy has been reported in a minority of cases.
Definition from the Mondo Disease Ontology (MONDO:0012277), read 2026-09-29. CC BY 4.0.
Features
20 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Fatigable weakness of distal limb musclesHPOHP:0030198
- Frequent (30% to 79% of cases)
- Intrinsic hand muscle atrophyHPOHP:0008954
- Frequent (30% to 79% of cases)
- Progressive proximal muscle weaknessHPOHP:0009073
- Frequent (30% to 79% of cases)
- Abnormality of the cardiovascular systemHPOHP:0001626
- Occasional (5% to 29% of cases)
- Ankle weaknessHPOHP:0031374
- Occasional (5% to 29% of cases)
- Leg muscle stiffnessHPOHP:0008969
- Occasional (5% to 29% of cases)
Show the remaining 8
- Decreased patellar reflexHPOHP:0011808
- Very rare (1% to 4% of cases)
- Foot dorsiflexor weaknessHPOHP:0009027
- Very rare (1% to 4% of cases)
- Gait disturbanceHPOHP:0001288
- Very rare (1% to 4% of cases)
- Generalized muscle weaknessHPOHP:0003324
- Very rare (1% to 4% of cases)
- Heart blockHPOHP:0012722
- Very rare (1% to 4% of cases)
- Limb-girdle muscle weaknessHPOHP:0003325
- Very rare (1% to 4% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- LDB3HGNC:15710
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2018
- Limited · G2P · Autosomal dominant · 2022
Where it sits
Other names
6 names
Resolves to: myofibrillar myopathy 4
- Also called
- LDB3 myofibrillar myopathy (disease)LDB3-related myofibrillar myopathymyofibrillar myopathy (disease) caused by mutation in LDB3myofibrillar myopathy type 4myopathy, myofibrillar, type 4ZASP-related myofibrillar myopathy