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Results 1 - 10 of 110 for Skeletal myopathy
  1. Barth syndrome 
    ... dilated cardiomyopathy), weakness in muscles used for movement (skeletal myopathy), recurrent infections due to small numbers of white ... no symptoms of heart disease.In Barth syndrome, skeletal myopathy, particularly of the muscles closest to the center ...
    https://medlineplus.gov/genetics/condition/barth-syndrome - Genetics
  2. Danon disease 
    ... is called the Wolff-Parkinson-White syndrome pattern.Skeletal myopathy occurs in most people with Danon disease who ...
    https://medlineplus.gov/genetics/condition/danon-disease - Genetics
  3. Laing distal myopathy 
    ... distal myopathy MPD1 Genetic Testing Registry: MYH7-related skeletal myopathy Laing early-onset distal myopathy National Organization for ... Mastaglia FL, Laing NG. Mutations in the slow skeletal muscle fiber myosin heavy ... laing early-onset distal myopathy (MPD1). Am J Hum Genet. 2004 Oct;75( ...
    https://medlineplus.gov/genetics/condition/laing-distal-myopathy - Genetics
  4. Actin-accumulation myopathy 
    ... Ochala J. Thin filament proteins mutations associated with skeletal myopathies: defective regulation of muscle contraction. J Mol Med ( ... NG. Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1). Neuromuscul Disord. 2003 ... Citation on PubMed
    https://medlineplus.gov/.../condition/actin-accumulation-myopathy - Genetics
  5. ACTA1 gene 
    ... Ochala J. Thin filament proteins mutations associated with skeletal myopathies: defective regulation of muscle contraction. J Mol Med ( ...
    https://medlineplus.gov/genetics/gene/acta1 - Genetics
  6. Cap myopathy 
    ... Ochala J. Thin filament proteins mutations associated with skeletal myopathies: defective regulation of muscle contraction. J Mol Med ( ...
    https://medlineplus.gov/genetics/condition/cap-myopathy - Genetics
  7. Intranuclear rod myopathy 
    ... Ochala J. Thin filament proteins mutations associated with skeletal myopathies: defective regulation of muscle contraction. J Mol Med ( ... NG. Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1). ... rod myopathy, a rare and morphologically striking variant of nemaline ...
    https://medlineplus.gov/genetics/condition/intranuclear-rod-myopathy - Genetics
  8. TPM3 gene 
    ... Ochala J. Thin filament proteins mutations associated with skeletal myopathies: defective regulation of muscle contraction. J Mol Med ( ...
    https://medlineplus.gov/genetics/gene/tpm3 - Genetics
  9. TPM2 gene 
    ... Ochala J. Thin filament proteins mutations associated with skeletal myopathies: defective regulation of muscle contraction. J Mol Med ( ...
    https://medlineplus.gov/genetics/gene/tpm2 - Genetics
  10. TNNI2 gene 
    ... Ochala J. Thin filament proteins mutations associated with skeletal myopathies: defective regulation of muscle contraction. J Mol Med ( ...
    https://medlineplus.gov/genetics/gene/tnni2 - Genetics
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