Trait
Limb muscle weakness
Reduced strength and weakness of the muscles of the arms and legs.
Summary
- Also called
- Limb weakness
Reference genomeGRCh38hg38
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Get my Genome Test66 genes linked to Limb muscle weakness
Changes in these genes cause rare conditions in which Limb muscle weakness is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.
| Gene | How often it is seen | Conditions |
|---|---|---|
| ATP7BATPase copper transporting beta | Always | In 1 condition |
| CFL2cofilin 2 | Always | In 1 condition |
| CHRNA1cholinergic receptor nicotinic alpha 1 subunit | Always | In 1 condition |
| CHRNB1cholinergic receptor nicotinic beta 1 subunit | Always | In 1 condition |
| COA7cytochrome c oxidase assembly factor 7 | Always | In 1 condition |
| GAAalpha glucosidase | Always | In 1 condition |
| GUK1guanylate kinase 1 | Always | In 1 condition |
| HNRNPA2B1heterogeneous nuclear ribonucleoprotein A2/B1 | Always | In 1 condition |
| MEGF10multiple EGF like domains 10 | Always | In 1 condition |
| NOTCH2NLCnotch 2 N-terminal like C | Always | In 1 condition |
| PMP22peripheral myelin protein 22 | Always | In 2 conditions |
| PYROXD1pyridine nucleotide-disulphide oxidoreductase domain 1 | Always | In 1 condition |
| RFC4replication factor C subunit 4 | Always | In 1 condition |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Always | In 2 conditions |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Always | In 1 condition |
| TBCKTBC1 domain containing kinase | Always | In 1 condition |
| AMPD1adenosine monophosphate deaminase 1 | Very often (80–99%) | In 1 condition |
| AMPD3adenosine monophosphate deaminase 3 | Very often (80–99%) | In 1 condition |
| RNASEH1ribonuclease H1 | Very often (80–99%) | In 1 condition |
| RRM1ribonucleotide reductase catalytic subunit M1 | Very often (80–99%) | In 1 condition |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Very often (80–99%) | In 2 conditions |
| ACTA1actin alpha 1, skeletal muscle | Often (30–79%) | In 2 conditions |
| DYMdymeclin | Often (30–79%) | In 1 condition |
| GFAPglial fibrillary acidic protein | Often (30–79%) | In 1 condition |
| KBTBD13kelch repeat and BTB domain containing 13 | Often (30–79%) | In 2 conditions |
| KLHL41kelch like family member 41 | Often (30–79%) | In 1 condition |
| LAMP2lysosome associated membrane protein 2 | Often (30–79%) | In 1 condition |
| MYPNmyopalladin | Often (30–79%) | In 1 condition |
| NEBnebulin | Often (30–79%) | In 2 conditions |
| POLGDNA polymerase gamma, catalytic subunit | Often (30–79%) | In 2 conditions |
| POLG2DNA polymerase gamma 2, accessory subunit | Often (30–79%) | In 2 conditions |
| POPDC1popeye domain cAMP effector 1 | Often (30–79%) | In 1 condition |
| SLC25A4solute carrier family 25 member 4 | Often (30–79%) | In 1 condition |
| TPM2tropomyosin 2 | Often (30–79%) | In 2 conditions |
| TPM3tropomyosin 3 | Often (30–79%) | In 1 condition |
| TRIP4thyroid hormone receptor interactor 4 | Often (30–79%) | In 1 condition |
| TWNKtwinkle mtDNA helicase | Often (30–79%) | In 2 conditions |
| ALADaminolevulinate dehydratase | Sometimes (5–29%) | In 1 condition |
| BTDbiotinidase | Sometimes (5–29%) | In 1 condition |
| COLQcollagen like tail subunit of asymmetric acetylcholinesterase | Sometimes (5–29%) | In 1 condition |
Show 26 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| GANgigaxonin | Sometimes (5–29%) | In 1 condition |
| PLOD1procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | Sometimes (5–29%) | In 1 condition |
| TIA1TIA1 cytotoxic granule associated RNA binding protein | Sometimes (5–29%) | In 1 condition |
| VCPvalosin containing protein | Sometimes (5–29%) | In 2 conditions |
| ACOX1acyl-CoA oxidase 1 | Not recorded | In 1 condition |
| ARandrogen receptor | Not recorded | In 1 condition |
| CCNFcyclin F | Not recorded | In 1 condition |
| CD59CD59 molecule (CD59 blood group) | Not recorded | In 1 condition |
| CHRNEcholinergic receptor nicotinic epsilon subunit | Not recorded | In 1 condition |
| DYNC1H1dynein cytoplasmic 1 heavy chain 1 | Not recorded | In 1 condition |
| GBA2glucosylceramidase beta 2 | Not recorded | In 1 condition |
| GDAP1ganglioside induced differentiation associated protein 1 | Not recorded | In 1 condition |
| IGHMBP2immunoglobulin mu DNA binding protein 2 | Not recorded | In 1 condition |
| KIF1Bkinesin family member 1B | Not recorded | In 1 condition |
| LMNAlamin A/C | Not recorded | In 1 condition |
| MFN2mitofusin 2 | Not recorded | In 2 conditions |
| MPZmyelin protein zero | Not recorded | In 1 condition |
| MTAPmethylthioadenosine phosphorylase | Not recorded | In 1 condition |
| PABPN1poly(A) binding protein nuclear 1 | Not recorded | In 1 condition |
| PEX7peroxisomal biogenesis factor 7 | Not recorded | In 1 condition |
| PHYHphytanoyl-CoA 2-hydroxylase | Not recorded | In 1 condition |
| PRXperiaxin | Not recorded | In 1 condition |
| SLC12A6solute carrier family 12 member 6 | Not recorded | In 1 condition |
| SLC52A2solute carrier family 52 member 2 | Not recorded | In 1 condition |
| TK2thymidine kinase 2 | Not recorded | In 1 condition |
| VPS13Avacuolar protein sorting 13 homolog A | Not recorded | In 1 condition |
How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.
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Where this comes from
- The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
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