Centronuclear MyopathySymptoms, Doctors, Treatments, Advances & More
Centronuclear Myopathy Overview
Learn About Centronuclear Myopathy
Centronuclear myopathy is a condition characterized by muscle weakness (myopathy) and wasting (atrophy) in the skeletal muscles, which are the muscles used for movement. The severity of centronuclear myopathy varies among affected individuals, even among members of the same family.
Centronuclear myopathy is most often caused by mutations in the DNM2, BIN1, or TTN gene. The proteins produced from the DNM2 and BIN1 genes are involved in endocytosis, a process that brings substances into the cell. The protein produced from the BIN1 gene plays an additional role in the formation of tube-like structures called transverse tubules (or T tubules), which are found within the membrane of muscle fibers. These tubules help transmit the electrical impulses necessary for normal muscle tensing (contraction) and relaxation. The protein produced from the DNM2 gene also regulates the actin cytoskeleton, which makes up the muscle fiber's structural framework. DNM2 and BIN1 gene mutations lead to abnormal muscle fibers that cannot contract and relax normally, resulting in muscle weakness.
Centronuclear myopathy is a rare condition; its exact prevalence is unknown.
When centronuclear myopathy is caused by mutations in the DNM2 gene, it is inherited in an autosomal dominant pattern, which means one copy of the altered DNM2 gene in each cell is sufficient to cause the disorder. Rarely, BIN1 gene mutations that are inherited in an autosomal dominant pattern can cause centronuclear myopathy.
Heinz Jungbluth practices practicing medicine in London, United Kingdom. Mr. Jungbluth is rated as an Elite expert by MediFind in the treatment of Centronuclear Myopathy. He is also highly rated in 33 other conditions, according to our data. His clinical expertise encompasses Vici Syndrome, Centronuclear Myopathy, Rhabdomyolysis, and Tubular Aggregate Myopathy.
Jocelyn Laporte practices practicing medicine in Illkirch-graffenstaden, France. Ms. Laporte is rated as an Elite expert by MediFind in the treatment of Centronuclear Myopathy. She is also highly rated in 16 other conditions, according to our data. Her clinical expertise encompasses Tubular Aggregate Myopathy, X-Linked Myotubular Myopathy, Congenital Fiber-Type Disproportion, and Centronuclear Myopathy.
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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 Centronuclear Myopathy. He is also highly rated in 21 other conditions, according to our data. His clinical expertise encompasses Tubular Aggregate Myopathy, Congenital Fiber-Type Disproportion, X-Linked Myotubular Myopathy, Centronuclear Myopathy, and Gastrostomy.
Summary: In the Congenital Myopathy Research Program at Boston Children's Hospital and Harvard Medical School, the researchers are studying the congenital myopathies (neuromuscular diseases present from birth), including central core disease, centronuclear/myotubular myopathy, congenital fiber type disproportion, multiminicore disease, nemaline myopathy, rigid spine muscular dystrophy, SELENON (SEPN1), RYR...
Summary: The objective of the ActiLiège Next study is to collect longitudinal data from patients and control subjects using a wearable magneto-inertial device. By collecting natural history data in various neuromuscular disorders (Duchenne Muscular Dystrophy, Fascioscapulohumeral Muscular Dystrophy, Myotonic Dystrophy 1, Charcot-Marie-Tooth, Centronuclear Myopathy, Congenital Muscular Dystrophy), we aim to...
Published Date: November 01, 2015
Published By: National Institutes of Health