X-Linked Myotubular Myopathy
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X-Linked Myotubular Myopathy Overview

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Learn About X-Linked Myotubular Myopathy

What is the definition of X-Linked Myotubular Myopathy?
X-linked myotubular myopathy (XLMTM) is a type of centronuclear myopathy, which is a group of rare, inherited conditions that affect the muscles. XLMTM, specifically, occurs almost exclusively in males and is characterized by progressive muscle weakness (myopathy) and decreased muscle tone (hypotonia) that can range from mild to severe. The muscle problems impair the development of motor skills such as sitting, standing, and walking, and may disrupt primary functions such as breathing and feeding. XLMTM is caused by changes in the MTM1 gene and is inherited in an X-linked recessive manner.
What are the alternative names for X-Linked Myotubular Myopathy?
  • X-linked myotubular myopathy
  • X-linked centronuclear myopathy
  • XLCNM
  • XLMTM
Who are the top X-Linked Myotubular Myopathy Local Doctors?
Elite in X-Linked Myotubular Myopathy
Elite in X-Linked Myotubular Myopathy
Referral may be required

Penn Neuroscience Center - Neurology

3400 Civic Center Boulevard, South Pavilion, 2nd Floor, 
Philadelphia, PA 
800-789-7366
Languages Spoken:
English
See accepted insurances
Accepting New Patients

James Dowling is a Neurologist practicing medicine in Philadelphia, Pennsylvania. Dr. Dowling is rated as an Elite provider by MediFind in the treatment of X-Linked Myotubular Myopathy. He is also highly rated in 20 other conditions, according to our data. His clinical expertise encompasses Tubular Aggregate Myopathy, Congenital Fiber-Type Disproportion, X-Linked Myotubular Myopathy, and Horizontal Gaze Palsy with Progressive Scoliosis. Dr. Dowling is board certified in Neurology - Child Neurology, 2007. Dr. Dowling is currently accepting new patients.

Elite in X-Linked Myotubular Myopathy
Dr. Perry Shieh
Neurology
Elite in X-Linked Myotubular Myopathy
Dr. Perry Shieh
Neurology
Referral may be required

Office

300 Medical Plz Ste B-200, 
Los Angeles, CA 
310-794-1195
Languages Spoken:
English
See accepted insurances
Offers Telehealth

Perry Shieh is a Neurologist practicing medicine in Los Angeles, California. Dr. Shieh is rated as an Elite provider by MediFind in the treatment of X-Linked Myotubular Myopathy. He is also highly rated in 47 other conditions, according to our data. His clinical expertise encompasses Duchenne Muscular Dystrophy, Spinal Muscular Atrophy (SMA), Becker Muscular Dystrophy, and Tubular Aggregate Myopathy.

 
 
 
 
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Elite in X-Linked Myotubular Myopathy
Dr. Carsten Bonnemann
Pediatric Neurology
Elite in X-Linked Myotubular Myopathy
Dr. Carsten Bonnemann
Pediatric Neurology
Referral may be required

Office

3401 Civic Center Blvd, 
Philadelphia, PA 
215-590-1719
Languages Spoken:
English

Carsten Bonnemann is a Pediatric Neurologist practicing medicine in Philadelphia, Pennsylvania. Dr. Bonnemann is rated as an Elite provider by MediFind in the treatment of X-Linked Myotubular Myopathy. He is also highly rated in 20 other conditions, according to our data. His clinical expertise encompasses Tubular Aggregate Myopathy, Congenital Fiber-Type Disproportion, X-Linked Myotubular Myopathy, Hypotonia, and Gastrostomy.

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What are the latest X-Linked Myotubular Myopathy Clinical Trials?
A Non-interventional, Epidemiologic Study of XLMTM and Clinical Expression in the Liver
A Non-interventional, Epidemiologic Study of XLMTM and Clinical Expression in the Liver
Enrollment Status: Recruiting
Publish Date: May 28, 2026
Intervention Type: Other

Summary: XLMTM (X-linked myotubular myopathy) is a serious genetic muscle condition. It is caused by changes in the MTM1 gene which stops or slows down normal muscle development, causing severe muscle weakness. There is currently no cure for XLMTM. Ongoing care is needed to manage symptoms and prevent further medical problems from this condition. Recent research shows that individuals with XLMTM often have...

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A Phase 1/2, Multicenter, Open-label, Dose Escalation and Expansion Clinical Study to Evaluate the Safety, Tolerability and Preliminary Efficacy of ASP2957 in Male Participants With Invasive Ventilator-dependent X-linked Myotubular Myopathy
A Phase 1/2, Multicenter, Open-label, Dose Escalation and Expansion Clinical Study to Evaluate the Safety, Tolerability and Preliminary Efficacy of ASP2957 in Male Participants With Invasive Ventilator-dependent X-linked Myotubular Myopathy
Enrollment Status: Recruiting
Publish Date: May 28, 2026
Intervention Type: Drug, Genetic
Study Phase: Phase 1/Phase 2

Summary: X-linked myotubular myopathy (XLMTM) is a rare and serious condition present at birth where the muscles do not work properly. There are currently no approved therapies for XLMTM. The protein myotubularin is needed for muscle development, movement and breathing. A gene called MTM1 tells the body to make myotubularin. XLMTM is caused by changes, or mutations, in the MTM1 gene. Changes in the MTM1 ge...

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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center