Trait
Progressive proximal muscle weakness
Lack of strength of the proximal muscles that becomes progressively more severe.
Summary
- Also called
- Muscle weakness, progressive, proximal
- Body system
- Abnormality of the musculoskeletal system
Read the genes linked to Progressive proximal muscle weakness, and the rest of your genome, with one test.
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Get my Genome Test31 genes linked to Progressive proximal muscle weakness
Changes in these genes cause rare conditions in which Progressive proximal 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 |
|---|---|---|
| MLIPmuscular LMNA interacting protein | Always | In 1 condition |
| MPV17mitochondrial inner membrane protein MPV17 | Always | In 1 condition |
| VCPvalosin containing protein | Always | In 1 condition |
| ABHD5abhydrolase domain containing 5, lysophosphatidic acid acyltransferase | Very often (80–99%) | In 1 condition |
| COL12A1collagen type XII alpha 1 chain | Very often (80–99%) | In 1 condition |
| COL6A1collagen type VI alpha 1 chain | Very often (80–99%) | In 1 condition |
| COL6A2collagen type VI alpha 2 chain | Very often (80–99%) | In 1 condition |
| COL6A3collagen type VI alpha 3 chain | Very often (80–99%) | In 1 condition |
| PLECplectin | Very often (80–99%) | In 1 condition |
| PNPLA2patatin like domain 2, triacylglycerol lipase | Very often (80–99%) | In 1 condition |
| DYSFdysferlin | Often (30–79%) | In 1 condition |
| LAMP2lysosome associated membrane protein 2 | Often (30–79%) | In 1 condition |
| LDB3LIM domain binding 3 | Often (30–79%) | In 2 conditions |
| MT-TEmitochondrially encoded tRNA-Glu (GAA/G) | Often (30–79%) | In 1 condition |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Often (30–79%) | In 1 condition |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Often (30–79%) | In 1 condition |
| MT-TNmitochondrially encoded tRNA-Asn (AAU/C) | Often (30–79%) | In 1 condition |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Often (30–79%) | In 1 condition |
| TRAPPC11trafficking protein particle complex subunit 11 | Often (30–79%) | In 1 condition |
| ABCD3ATP binding cassette subfamily D member 3 | Sometimes (5–29%) | In 1 condition |
| ANO5anoctamin 5 | Sometimes (5–29%) | In 1 condition |
| CRYABcrystallin alpha B | Sometimes (5–29%) | In 1 condition |
| GIPC1GIPC PDZ domain containing family member 1 | Sometimes (5–29%) | In 1 condition |
| HNRNPA1heterogeneous nuclear ribonucleoprotein A1 | Sometimes (5–29%) | In 1 condition |
| LRP12LDL receptor related protein 12 | Sometimes (5–29%) | In 1 condition |
| MYOTmyotilin | Sometimes (5–29%) | In 1 condition |
| NEBnebulin | Sometimes (5–29%) | In 1 condition |
| NOTCH2NLCnotch 2 N-terminal like C | Sometimes (5–29%) | In 1 condition |
| NUTM2B-AS1NUTM2B antisense RNA 1 | Sometimes (5–29%) | In 1 condition |
| PYGMglycogen phosphorylase, muscle associated | Sometimes (5–29%) | In 1 condition |
| RILPL1Rab interacting lysosomal protein like 1 | Sometimes (5–29%) | 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.
Broader traits
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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