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Results 1 - 10 of 294 for Abnormality of process muscle
  1. MED12 gene 
    ... as cell growth, cell movement (migration), and the process by which cells mature to carry out ... abnormalities including weak muscle tone (hypotonia) and obstruction of the anal opening ( ...
    https://medlineplus.gov/genetics/gene/med12 - Genetics
  2. TWNK gene 
    ... gene mutations lead to hearing problems and ovarian abnormalities in affected ... process. Although the mechanism is unclear, replication stalling seems ...
    https://medlineplus.gov/genetics/gene/twnk - Genetics
  3. ANO5 gene 
    ... to fragile bones, jaw problems, and other skeletal abnormalities. The ANO5 ... way cells process calcium, an important mineral in bone development and ...
    https://medlineplus.gov/genetics/gene/ano5 - Genetics
  4. COL1A1 gene 
    ... condition is characterized by swelling of soft tissues (muscles, for example), ... a normal process called bone remodeling, which replaces old bone tissue ...
    https://medlineplus.gov/genetics/gene/col1a1 - Genetics
  5. ALG12-congenital disorder of glycosylation 
    ... people with ALG12-CDG include a weakened heart muscle (cardiomyopathy) and poor bone development, ... enzyme that is involved in a process called glycosylation. During this process, complex chains of ...
    https://medlineplus.gov/...lg12-congenital-disorder-of-glycosylation - Genetics
  6. Rapid-onset dystonia parkinsonism 
    ... which is an essential part of the signaling process that controls muscle movement. ... characteristic of rapid-onset dystonia parkinsonism. The signs ...
    https://medlineplus.gov/.../rapid-onset-dystonia-parkinsonism - Genetics
  7. Phosphoglycerate kinase deficiency 
    ... which is involved in a critical energy-producing process in cells known as ... and muscle cells in others. Researchers speculate that different PGK1 ...
    https://medlineplus.gov/.../phosphoglycerate-kinase-deficiency - Genetics
  8. Spastic paraplegia type 15 
    ... decline in intellectual ability and an increase in muscle weakness and nerve abnormalities over ... spastizin. This protein is important in a process called autophagy, in which worn-out cell parts ...
    https://medlineplus.gov/.../condition/spastic-paraplegia-type-15 - Genetics
  9. Sheldon-Hall syndrome 
    ... important for early development of the muscles.The process of muscle contraction is controlled (regulated) by other proteins called ... properly controlled, resulting in the contractures and other muscle and skeletal abnormalities associated with Sheldon-Hall syndrome. It is unknown ...
    https://medlineplus.gov/genetics/condition/sheldon-hall-syndrome - Genetics
  10. Muscular Dystrophy From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    Muscular Dystrophy/Start Here ... Muscular Dystrophy ... National Institute of Neurological Disorders and Stroke ... From the National Institutes of Health ... Muscular dystrophy ( ...
    https://www.ninds.nih.gov/.../disorders/muscular-dystrophy - External Health Links
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