muscular dystrophy, limb-girdle, autosomal recessive 28
MONDO:0957270Mondo
Findings
No curated finding names muscular dystrophy, limb-girdle, autosomal recessive 28 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Middle age onset · Juvenile onset · Childhood onset
HPO, annotations 2026-09-02
Features
33 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.
- AreflexiaHPOHP:0001284
- 1 of 1 reported patient
- Axial muscle weaknessHPOHP:0003327
- 7 of 7 reported patients
- Calf muscle hypertrophyHPOHP:0008981
- 3 of 3 reported patients
- Centrally nucleated skeletal muscle fibersHPOHP:0003687
- 3 of 3 reported patients
- Diminished deep tendon reflexHPOHP:0001315
- 6 of 6 reported patients
- Elevated circulating alkaline phosphatase concentrationHPOHP:0003155
- 1 of 1 reported patient
- Elevated circulating creatine kinase activityHPOHP:0003236
- 5 of 5 reported patients
- Exercise-induced myalgiaHPOHP:0003738
- 6 of 6 reported patients
- HyporeflexiaHPOHP:0001265
- 3 of 3 reported patients
- Increased circulating troponin T concentrationHPOHP:0410174
- 4 of 4 reported patients
- Lower limb amyotrophyHPOHP:0007210
- 3 of 3 reported patients
- MyalgiaHPOHP:0003326
- 3 of 3 reported patients
Show the remaining 21
- Proximal muscle weaknessHPOHP:0003701
- 9 of 9 reported patients
- Reduced muscle fiber alpha dystroglycanHPOHP:0030099
- 1 of 1 reported patient
- Respiratory failure requiring assisted ventilationHPOHP:0004887
- 1 of 1 reported patient
- Respiratory insufficiency due to muscle weaknessHPOHP:0002747
- 3 of 3 reported patients
- Type 1 muscle fiber predominanceHPOHP:0003803
- 4 of 4 reported patients
- Type 2 muscle fiber predominanceHPOHP:0010602
- 1 of 1 reported patient
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.
- HMGCRHGNC:5006
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Moderate · G2P · Autosomal recessive · 2025