Muscular dystrophy, limb-girdle, autosomal recessive 23: genes and variants
Muscular dystrophy, limb-girdle, autosomal recessive 23 is linked to 3 analyzed proteins (LAMA2, HMGCR and L1CAM). 6 DNA variants are known to cause it; 88 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Also known as: muscular dystrophy, limb-girdle, autosomal recessive 28
Genes linked to Muscular dystrophy, limb-girdle, autosomal recessive 23
LAMA2: Laminin subunit alpha-2
It links cells to surrounding extracellular matrix through dystroglycan and integrins. Biallelic loss-of-function variants cause LAMA2-related muscular dystrophy, ranging from severe congenital disease to later-onset limb-girdle weakness.
4 disease-causing and 86 uncertain variants in LAMA2 are linked to Muscular dystrophy, limb-girdle, autosomal recessive 23.
HMGCR: 3-hydroxy-3-methylglutaryl-coenzyme A reductase
It controls the rate-limiting step of the mevalonate pathway and therefore strongly regulates endogenous cholesterol production. Statins lower LDL cholesterol by inhibiting this activity, causing the liver to increase LDL-receptor-mediated clearance from blood.
1 disease-causing and 2 uncertain variants in HMGCR are linked to Muscular dystrophy, limb-girdle, autosomal recessive 23.
L1CAM: Neural cell adhesion molecule L1
It promotes neuronal adhesion, axon guidance, neurite growth, and fasciculation during nervous-system development. Loss-of-function variants cause L1 syndrome, encompassing X-linked hydrocephalus, MASA syndrome, spastic paraplegia, and variable intellectual disability.
1 disease-causing and 0 uncertain variants in L1CAM are linked to Muscular dystrophy, limb-girdle, autosomal recessive 23.
Known disease-causing variants in Muscular dystrophy, limb-girdle, autosomal recessive 23
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| LAMA2 M1T | 1 | Disease-causing (★★) | |
| LAMA2 R1508K | 1508 | Laminin EGF-like 16 | Disease-causing (★★) |
| LAMA2 G284R | 284 | Laminin N-terminal | Disease-causing (★) |
| LAMA2 C969Y | 969 | Laminin EGF-like 10 | Disease-causing (★) |
| L1CAM D72A | 72 | Ig-like C2-type 1 | Disease-causing (★) |
| HMGCR Y792C | 792 | Cytoplasmic | Disease-causing |
Same protein, different disease
- LAMA2-related muscular dystrophy is also caused by LAMA2 variants; they fall mostly in different places as the Muscular dystrophy, limb-girdle, autosomal recessive 23 variants (11 disease-causing).
- Merosin deficient congenital muscular dystrophy is also caused by LAMA2 variants; they fall mostly in different places as the Muscular dystrophy, limb-girdle, autosomal recessive 23 variants (9 disease-causing).
- X-linked hydrocephalus syndrome is also caused by L1CAM variants; they fall mostly in different places as the Muscular dystrophy, limb-girdle, autosomal recessive 23 variants (8 disease-causing).
- L1 syndrome is also caused by L1CAM variants; they fall mostly in different places as the Muscular dystrophy, limb-girdle, autosomal recessive 23 variants (7 disease-causing).
- MASA syndrome is also caused by L1CAM variants; they fall mostly in different places as the Muscular dystrophy, limb-girdle, autosomal recessive 23 variants (6 disease-causing).
Diseases related to Muscular dystrophy, limb-girdle, autosomal recessive 23
- Familial hypercholesterolemia, also linked to HMGCR
- Alzheimer disease, also linked to HMGCR
- Type 2 diabetes mellitus, also linked to HMGCR
- Hyperlipoproteinemia, also linked to HMGCR
- Congenital muscular dystrophy due to LMNA mutation, also linked to LAMA2
- LAMA2-related muscular dystrophy, also linked to LAMA2
- Muscular dystrophy, also linked to LAMA2
- Merosin deficient congenital muscular dystrophy, also linked to LAMA2
- X-linked hydrocephalus syndrome, also linked to L1CAM
- L1 syndrome, also linked to L1CAM
- MASA syndrome, also linked to L1CAM
- Myocardial infarction, also linked to HMGCR
Frequently asked questions
Which genes are linked to Muscular dystrophy, limb-girdle, autosomal recessive 23?
In CATVariant, Muscular dystrophy, limb-girdle, autosomal recessive 23 is linked to 3 analyzed proteins: LAMA2 (Laminin subunit alpha-2), HMGCR (3-hydroxy-3-methylglutaryl-coenzyme A reductase) and L1CAM (Neural cell adhesion molecule L1).
How many genetic variants are linked to Muscular dystrophy, limb-girdle, autosomal recessive 23?
113 variants: 6 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 88 are of uncertain significance or have conflicting reports.
Which uncertain variants in Muscular dystrophy, limb-girdle, autosomal recessive 23 look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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