Nemaline myopathy

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Nemaline myopathy

ORPHA:607Clinical group

Also called NEM · NM · Nemaline rod myopathy

What it is

Nemaline myopathy (NM) encompasses a large spectrum of myopathies characterized by hypotonia, weakness and depressed or absent deep tendon reflexes, with pathologic evidence of nemaline bodies (rods) on muscle biopsy.

Key facts

Prevalence
1-9 / 1 000 000 (United Kingdom)
Age of onset
All ages
Inheritance
Autosomal dominant, Autosomal recessive, Not applicable
Classified as
Clinical group

Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.

Genes reported in subtypes

ACTA1CFL2KBTBD13KLHL40KLHL41LMOD3MYPNNEBTNNT1TPM2TPM3

Orphanet records these genes on 5 more specific entries under this disorder, not on this entry itself:

A well-studied disease is usually split into subtypes, and the gene is curated on whichever one the evidence belongs to. Open a subtype to see which gene goes with it.

Cross-references

GARD 12033MESH D017696MONDO 0018958MONDO 18958UMLS C0206157

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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