Tubular Aggregate Myopathy
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Tubular Aggregate Myopathy Overview

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What is the definition of Tubular Aggregate Myopathy?
Tubular aggregate myopathy is a disorder that affects the skeletal muscles. The leg muscles are most often affected, but the arm muscles may also be involved. Symptoms include muscle pain, cramping, weakness or stiffness; and exercise-induced muscle fatigue. Affected individuals may have an unusual walking style (gait) or difficulty running, climbing stairs, or getting up from a squatting position. Some individuals develop contractures. This condition may be caused by genetic changes in the STIM1 or ORAI1 genes. It is usually inherited in an autosomal dominant manner, but autosomal recessive inheritance has also been reported.
What are the alternative names for Tubular Aggregate Myopathy?
  • Tubular aggregate myopathy
  • Myopathy, tubular aggregate
Who are the top Tubular Aggregate Myopathy Local Doctors?
Elite in Tubular Aggregate Myopathy
Elite in Tubular Aggregate Myopathy
Referral required

MN - Neuro

200 1st St SW, 
Rochester, MN 
507-512-1011
Languages Spoken:
English
See accepted insurances
Offers Telehealth

Margherita Milone is a Neurologist practicing medicine in Rochester, Minnesota. Dr. Milone is rated as an Elite provider by MediFind in the treatment of Tubular Aggregate Myopathy. She is also highly rated in 36 other conditions, according to our data. Her clinical expertise encompasses Necrotizing Myopathy (NM), Nemaline Myopathy, Progressive External Ophthalmoplegia, and Tubular Aggregate Myopathy. Dr. Milone is board certified in MN State Medical License 2003-2023.

Elite in Tubular Aggregate Myopathy
Elite in Tubular Aggregate 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 Tubular Aggregate 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.

 
 
 
 
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Elite in Tubular Aggregate Myopathy
Dr. Perry Shieh
Neurology
Elite in Tubular Aggregate 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 Tubular Aggregate 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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What are the latest Tubular Aggregate 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