autosomal recessive limb-girdle muscular dystrophy type 2M
Findings
No curated finding names autosomal recessive limb-girdle muscular dystrophy type 2M yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A form of limb-girdle muscular dystrophy characterized by an infantile onset of hypotonia, axial and proximal lower limb weakness (with severe weakness noted after febrile illnesses), cardiomyopathy and normal or reduced intelligence. Hypertrophy of calves, thighs, and triceps have also been reported in some cases.
Definition from the Mondo Disease Ontology (MONDO:0012699), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Progressive
HPO, annotations 2026-09-02
Features
11 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.
- Elevated circulating creatine kinase activityHPOHP:0003236
- 3 of 3 reported patients
- Hypoglycosylation of alpha-dystroglycanHPOHP:0030046
- 3 of 3 reported patients
- HypotoniaHPOHP:0001252
- 3 of 3 reported patients
- Motor delayHPOHP:0001270
- 3 of 3 reported patients
- Muscular dystrophyHPOHP:0003560
- 3 of 3 reported patients
- Proximal muscle weaknessHPOHP:0003701
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.
- FKTNHGNC:3622
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
5 names
Resolves to: autosomal recessive limb-girdle muscular dystrophy type 2M
- Also called
- autosomal recessive limb-girdle muscular dystrophy caused by mutation in FKTNFKTN autosomal recessive limb-girdle muscular dystrophyLGMD-FKTN relatedLGMD2MMDDGC4