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Results 1 - 10 of 31 for Hereditary skeletal muscle disorder
  1. GNE myopathy 
    GNE myopathy is a condition that primarily affects skeletal muscles, which are muscles that the body uses for movement. This disorder causes muscle weakness ...
    https://medlineplus.gov/genetics/condition/gne-myopathy - Genetics
  2. Hereditary myopathy with early respiratory failure 
    Hereditary myopathy with early respiratory failure (HMERF) is an inherited disease that affects muscles used for movement (skeletal muscles) and muscles that are ...
    https://medlineplus.gov/...y-myopathy-with-early-respiratory-failure - Genetics
  3. Spinal Muscular Atrophy From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    Spinal Muscular Atrophy/Start Here ... Spinal Muscular Atrophy ... National Institute of Neurological Disorders and Stroke ... Spinal muscular atrophy (SMA) refers to ...
    https://www.ninds.nih.gov/.../disorders/spinal-muscular-atrophy - External Health Links
  4. Hereditary Neuropathies From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    Peripheral Nerve Disorders/Specifics ... Peripheral Nerve Disorders ... National Institute of Neurological Disorders and Stroke ... From the National Institutes of Health
    https://www.ninds.nih.gov/.../disorders/hereditary-neuropathies - External Health Links
  5. Troyer syndrome 
    Troyer syndrome is a type of hereditary spastic paraplegia, also called hereditary spastic paraparesis. Hereditary spastic paraplegias are a group of genetic disorders characterized by progressive stiffness (spasticity) and ...
    https://medlineplus.gov/genetics/condition/troyer-syndrome - Genetics
  6. Myopathy with deficiency of iron-sulfur cluster assembly enzyme 
    ... not show signs and symptoms of the condition. Hereditary myopathy with lactic acidosis HML Iron-sulfur cluster ... with exercise intolerance, Swedish type Genetic Testing Registry: Hereditary myopathy with lactic acidosis due to ISCU deficiency ...
    https://medlineplus.gov/...cy-of-iron-sulfur-cluster-assembly-enzyme - Genetics
  7. Rhabdoid tumor predisposition syndrome 
    ... posterior fossa brain tumor syndrome Familial rhabdoid tumor Hereditary SWI/SNF deficiency syndrome Rhabdoid predisposition syndrome RTPS ... SYNDROME 2; RTPS2 PubMed Agaimy A, Foulkes WD. Hereditary SWI/SNF complex deficiency syndromes. Semin Diagn Pathol. ...
    https://medlineplus.gov/.../rhabdoid-tumor-predisposition-syndrome - Genetics
  8. Muscle Disorders (National Library of Medicine)  
    Your muscles help you move and help your body work. Different types of muscles have different jobs. There are many problems that can affect muscles. Muscle ...
    https://medlineplus.gov/muscledisorders.html - Health Topics
  9. TRPV4 gene 
    ... BRACHYOLMIA TYPE 3; BCYM3 PARASTREMMATIC DWARFISM NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 8; HMND8 SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX ...
    https://medlineplus.gov/genetics/gene/trpv4 - Genetics
  10. 2q37 deletion syndrome 
    ... to cause the disorder. 2q37 microdeletion syndrome Albright hereditary osteodystrophy-like syndrome Brachydactyly-mental retardation syndrome Chromosome ...
    https://medlineplus.gov/genetics/condition/2q37-deletion-syndrome - Genetics
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