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Trait

Muscle fiber splitting

Fiber splitting or branching is a common finding in human and rat skeletal muscle pathology. Fiber splitting refers to longitudinal halving of the complete fiber, while branching originates from a regenerating end of a necrotic fiber as invaginations of the sarcolemma. In fiber branching, one end of the fiber remains intact as a single entity, while the other end has several branches.

HPO HP:0003555

Summary

Also called
Fiber splitting, Fibre splitting
Body system
Abnormality of the musculoskeletal system

24 genes linked to Muscle fiber splitting

Changes in these genes cause rare conditions in which Muscle fiber splitting 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.

GeneHow often it is seenConditions
ADSS1adenylosuccinate synthase 1AlwaysIn 1 condition
ALDOAaldolase, fructose-bisphosphate AAlwaysIn 1 condition
CHRNB1cholinergic receptor nicotinic beta 1 subunitAlwaysIn 1 condition
COL6A2collagen type VI alpha 2 chainAlwaysIn 1 condition
HSPB8heat shock protein family B (small) member 8AlwaysIn 1 condition
MYOTmyotilinAlwaysIn 1 condition
PLECplectinAlwaysIn 1 condition
SGCGsarcoglycan gammaAlwaysIn 1 condition
ACTA1actin alpha 1, skeletal muscleVery often (80–99%)In 1 condition
ANO5anoctamin 5Often (30–79%)In 1 condition
FLNCfilamin COften (30–79%)In 2 conditions
TPM2tropomyosin 2Often (30–79%)In 1 condition
TTNtitinOften (30–79%)In 2 conditions
MAP3K20mitogen-activated protein kinase kinase kinase 20Sometimes (5–29%)In 1 condition
NEBnebulinSometimes (5–29%)In 1 condition
TNXBtenascin XBSometimes (5–29%)In 1 condition
ABCD3ATP binding cassette subfamily D member 3Not recordedIn 1 condition
CAPN3calpain 3Not recordedIn 1 condition
DNAJB6DnaJ heat shock protein family (Hsp40) member B6Not recordedIn 1 condition
DYSFdysferlinNot recordedIn 1 condition
LDB3LIM domain binding 3Not recordedIn 1 condition
NEFHneurofilament heavy chainNot recordedIn 1 condition
PLIN4perilipin 4Not recordedIn 1 condition
TRPV4transient receptor potential cation channel subfamily V member 4Not recordedIn 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

Abnormal muscle fiber morphology

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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