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ORPHA:169189

Autosomal dominant centronuclear myopathy

medium confidenceDisorder

Also known as: AD-CNM

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

356

74.5th percentile

Trials

0

Interventional, condition-specific

Researchers

1,390

Distinct authors in sample

Gene link

DNM2, MTMR14

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare, characterized by numerous centrally placed nuclei on muscle biopsy and clinical features of a (, distal/proximal muscle weakness, rib cage deformities (sometimes associated with respiratory insufficiency), ptosis, ophthalmoparesis and weakness of the muscles of facial expression with facial features.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (12)

CNM1 · autosomal dominant centronuclear myopathy · autosomal dominant centronuclear myopathy caused by mutation in MYF6 · centronuclear myopathy 1 · centronuclear myopathy, autosomal dominant · centronuclear myopathy, autosomal, modifier of · myopathy, centronuclear, 1 · myopathy, centronuclear, 3 · myopathy, centronuclear, autosomal dominant · myopathy, centronuclear, type 1 · myopathy, centronuclear, type 3 · myotubular myopathy, autosomal dominant

Research stages

Trial readiness signals

Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”

3/6 stages with a signal

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedPresent

    Definitive — DNM2, MTMR14

  2. LiteraturePresent

    356 matched papers (155 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPartial

    None under the specific name; 6 for broader category centronuclear myopathy

Biology

Genes and phenotypes

Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.

Do we know what causes it?

Yes — we know a specific gene responsible (DNM2, MTMR14).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

Not enriched in this build — Monarch phenotype joins were not run for this record.

Animal models (Monarch / Alliance)

Not enriched in this build.

Literature

Is anyone studying this?

356

356 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.

356 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).

155 in the last 10 years · medium confidence · 74.5th percentile (publications denominator)

Phrase hits: 356 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,390

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.

  1. 01
    Bitoun M26 papers · 2025

    Research Center for Myology, Institut de Myologie, UMRS 974, INSERM, Sorbonne Université, Paris, France.

    Papers in Europe PMC
  2. 02
    Laporte J14 papers · 2022

    Dpt Translational Medicine, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM U1258, Université de Strasbourg, CNRS UMR7104, Illkirch, France. jocelyn@igbmc.fr.

    Papers in Europe PMC
  3. 03
    Guicheney P13 papers · 2019

    UMRS 1166, INSERM, Institute of Cardiometabolism and Nutrition (ICAN), Paris, France.

    Papers in Europe PMC
  4. 04
    Prudhon B10 papers · 2022

    Research Center for Myology, Institute of Myology, UPMC Univ Paris, Paris, France.

    Papers in Europe PMC
  5. 05
    Romero NB9 papers · 2025

    Université Sorbonne, UPMC Univ Paris 06, INSERM UMRS974, CNRS FRE3617, Center for Research in Myology, Paris, France.

    Papers in Europe PMC
  6. 06
    Böhm J7 papers · 2022

    Department of Translational Medicine and Neurogenetics, Institut de Génétique et de Biologie Moléculaire et Cellulaire, INSERM U964/CNRS UMR7104, University of Strasbourg, Collège de France, Illkirch, France.

    Papers in Europe PMC
  7. 07
    Cowling BS7 papers · 2025

    Department of Translational Medicine and Neurogenetics, Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France.

    Papers in Europe PMC
  8. 08
    Biancalana V6 papers · 2017

    1 IGBMC (Institut de Génétique et de Biologie Moléculaire et Cellulaire), 67404 Illkirch, France 2 Inserm, U964, 67404 Illkirch, France 3 CNRS, UMR7104, 67404 Illkirch, France 4 Université de Strasbourg, 67404 Illkirch, France 5 Collège de France, Chaire de Génétique Humaine, 67404 Illkirch, France 6 Faculté de Médecine, Laboratoire de Diagnostic Génétique, Nouvel Hôpital Civil, 67000 Strasbourg, France.

    Papers in Europe PMC
  9. 09
    Nishino I6 papers · 2026

    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), Japan.

    Papers in Europe PMC
  10. 10
    Beggs AH5 papers · 2025

    Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts3Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

0

interventional trials for this specific condition

No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present). 6 trials are registered for centronuclear myopathy, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 27 July 2026

No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.

medium confidence · 36.5th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.

6 interventional trials matched centronuclear myopathy, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: centronuclear myopathy

6

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Worth raising with a clinician. How we count trials.

Recruiting under the broader category

Where to find support

We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:

India — NPRD

Last verified 2026-07-26

This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.

Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.

How we counted this

Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.

"Autosomal dominant centronuclear myopathy" OR "AD-CNM" OR "autosomal dominant centronuclear myopathy caused by mutation in MYF6" OR "centronuclear myopathy 1" OR "centronuclear myopathy, autosomal dominant" OR "centronuclear myopathy, autosomal, modifier of" OR "myopathy, centronuclear, 1" OR "myopathy, centronuclear, 3" OR "myopathy, centronuclear, autosomal dominant" OR "myopathy, centronuclear, type 1" OR "myopathy, centronuclear, type 3" OR "myotubular myopathy, autosomal dominant"

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Autosomal dominant centronuclear myopathy" OR "AD-CNM" OR "autosomal dominant centronuclear myopathy caused by mutation in MYF6" OR "centronuclear myopathy 1" OR "centronuclear myopathy, autosomal dominant" OR "centronuclear myopathy, autosomal, modifier of" OR "myopathy, centronuclear, 1" OR "myopathy, centronuclear, 3" OR "myopathy, centronuclear, autosomal dominant" OR "myopathy, centronuclear, type 1" OR "myopathy, centronuclear, type 3" OR "myotubular myopathy, autosomal dominant" OR "DNM2" OR "MTMR14"

Recall-expansion terms: DNM2, MTMR14

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"centronuclear myopathy"

Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: CNM1

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-27T08:37:02.890Z