Congenital multicore myopathy with external ophthalmoplegia

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ORPHA:98905OMIM:255320G71.2
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3Specialists8Treatment centers

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UniteRare data is sourced from FDA.gov, ClinicalTrials.gov, Orphanet, OMIM, and NORD.
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Overview

Clinical phenotype terms— hover any for plain English:

External ophthalmoplegiaHP:0000544Myopathic faciesHP:0002058Abnormal respiratory system physiologyHP:0002795Type 1 muscle fiber predominanceHP:0003803Increased connective tissueHP:0009025Abnormal skeletal muscle morphologyHP:0011805Type 1 muscle fiber atrophyHP:0011807Internally nucleated skeletal muscle fibersHP:0031237Hypertrophied muscle fibersHP:0100293
Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Congenital multicore myopathy with external ophthalmoplegia.

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No actively recruiting trials found for Congenital multicore myopathy with external ophthalmoplegia at this time.

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Specialists

3 foundView all specialists →
NP
Nicol Voermans, MD PhD
Specialist
PI on 1 active trial

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Congenital multicore myopathy with external ophthalmoplegia.

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Community

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Common questions about Congenital multicore myopathy with external ophthalmoplegia

Which specialists treat Congenital multicore myopathy with external ophthalmoplegia?

3 specialists and care centers treating Congenital multicore myopathy with external ophthalmoplegia are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.