Trait

Nemaline bodies

Nemaline rods are abnormal bodies that can occur in skeletal muscle fibers. The rods can be observed on histological analysis of muscle biopsy tissue or upon electron microscopy, where they appear either as extensions of sarcomeric Z-lines, in random array without obvious attachment to Z-lines (often in areas devoid of sarcomeres) or in large clusters localized at the sarcolemma or intermyofibrillar spaces.

HPO HP:0003798

Also called: Nemaline rods
Body system: Abnormal cellular phenotype Abnormality of the musculoskeletal system

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10 condition reports read genes linked to this trait

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21 genes linked to Nemaline bodies

Changes in these genes cause rare conditions in which Nemaline bodies 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
ACTA1actin alpha 1, skeletal muscle	Always	In 8 conditions
KYkyphoscoliosis peptidase	Always	In 1 condition
LMOD3leiomodin 3	Always	In 3 conditions
MYPNmyopalladin	Always	In 2 conditions
NDUFB3NADH:ubiquinone oxidoreductase subunit B3	Always	In 1 condition
NEBnebulin	Always	In 7 conditions
RFC4replication factor C subunit 4	Always	In 1 condition
RYR1ryanodine receptor 1	Always	In 4 conditions
RYR3ryanodine receptor 3	Always	In 1 condition
TNNT1troponin T1, slow skeletal type	Always	In 3 conditions
KBTBD13kelch repeat and BTB domain containing 13	Very often (80–99%)	In 2 conditions
KLHL41kelch like family member 41	Very often (80–99%)	In 5 conditions
TPM2tropomyosin 2	Very often (80–99%)	In 3 conditions
TPM3tropomyosin 3	Very often (80–99%)	In 3 conditions
CFL2cofilin 2	Often (30–79%)	In 2 conditions
COX11cytochrome c oxidase copper chaperone COX11	Often (30–79%)	In 1 condition
KLHL40kelch like family member 40	Often (30–79%)	In 2 conditions
ADSS1adenylosuccinate synthase 1	Sometimes (5–29%)	In 1 condition
NEFLneurofilament light chain	Sometimes (5–29%)	In 1 condition
PYROXD1pyridine nucleotide-disulphide oxidoreductase domain 1	Sometimes (5–29%)	In 1 condition
MYO18Bmyosin XVIIIB	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.

Broader traits

Muscle fiber cytoplasmatic inclusion bodies

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 2026.10.19-9814e911.

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