Trait

Skeletal myopathy

Body system: Abnormality of the musculoskeletal system

This page as data

Add .json to the page's address, or ask for application/json, to read it as JSON.

library(jsonlite)

url <- "https://dantelabs.com/traits/skeletal-myopathy.json"
page <- fromJSON(url)
page$trait$name

Open the JSON

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13 genes linked to Skeletal myopathy

Changes in these genes cause rare conditions in which Skeletal myopathy 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
MT-TEmitochondrially encoded tRNA-Glu (GAA/G)	Very often (80–99%)	In 1 condition
PNPLA2patatin like domain 2, triacylglycerol lipase	Very often (80–99%)	In 1 condition
TAFAZZINtafazzin, phospholipid-lysophospholipid transacylase	Very often (80–99%)	In 2 conditions
ALDOAaldolase, fructose-bisphosphate A	Often (30–79%)	In 1 condition
GYS1glycogen synthase 1	Often (30–79%)	In 1 condition
HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha	Often (30–79%)	In 1 condition
HADHBhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta	Often (30–79%)	In 1 condition
LAMP2lysosome associated membrane protein 2	Often (30–79%)	In 1 condition
SDHAsuccinate dehydrogenase complex flavoprotein subunit A	Often (30–79%)	In 1 condition
SDHAF1succinate dehydrogenase complex assembly factor 1	Often (30–79%)	In 1 condition
SDHBsuccinate dehydrogenase complex iron sulfur subunit B	Often (30–79%)	In 1 condition
SDHDsuccinate dehydrogenase complex subunit D	Often (30–79%)	In 1 condition
COMPcartilage oligomeric matrix protein	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

Muscle tissue disease

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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