autosomal recessive limb-girdle muscular dystrophy type 2C
Findings
No curated finding names autosomal recessive limb-girdle muscular dystrophy type 2C yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Autosomal recessive limb-girdle muscular dystrophy type 2C (LGMD2C) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a childhood onset of progressive shoulder and pelvic girdle muscle weakness and atrophy frequently associated with calf hypertrophy, diaphragmatic weakness, and/or variable cardiac abnormalities. Mild to moderate elevated serum creatine kinase levels and positive Gowers sign are reported.
Definition from the Mondo Disease Ontology (MONDO:0009677), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset · Rapidly progressive · Childhood onset
HPO, annotations 2026-09-02
Features
36 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.
- Increased endomysial connective tissueHPOHP:0100297
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Increased variability in muscle fiber diameterHPOHP:0003557
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Loss of ambulationHPOHP:0002505
- 20 of 20 reported patients
- Muscle fiber splittingHPOHP:0003555
- 1 of 1 reported patient
- Restrictive ventilatory defectHPOHP:0002091
- 5 of 5 reported patients
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.
- SGCGHGNC:10809
- Definitive · Ambry Genetics · Autosomal recessive · 2018
- Definitive · Myriad Women's Health · Autosomal recessive · 2018
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
10 names
Resolves to: autosomal recessive limb-girdle muscular dystrophy type 2C
- Also called
- autosomal recessive limb-girdle muscular dystrophy caused by mutation in SGCGDMDA1gamma-sarcoglycanopathyLGMD2Climb-girdle muscular dystrophy due to gamma-sarcoglycan deficiencyMaghrebian myopathymuscular dystrophy, limb-girdle, autosomal recessive 5muscular dystrophy, limb-girdle, type 2CSCARMDSGCG autosomal recessive limb-girdle muscular dystrophy