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Results 1 - 10 of 10 for Congenital myopathy 15
  1. Myosin storage myopathy 
    ... National Organization for Rare Disorders (NORD) ClinicalTrials.gov ... myosin storage myopathy via multiple mechanisms. Proc Natl Acad Sci U S A. 2009 Apr 14;106(15):6291-6. doi: 10.1073/pnas.0900107106. Epub ...
    https://medlineplus.gov/genetics/condition/myosin-storage-myopathy - Genetics
  2. Central core disease 
    ... Sewry C, Phadke R, Gautel M, Muntoni F. Congenital myopathies: disorders of ... core disease. Orphanet J Rare Dis. 2007 May 15;2:25. doi: 10.1186/1750-1172-2- ...
    https://medlineplus.gov/genetics/condition/central-core-disease - Genetics
  3. Tubular aggregate myopathy 
    ... reticulum in skeletal myotubes. Biochem J. 2013 Jul 15;453(2):187-200. doi: ... of tubular myopathy and congenital miosis. Proc Natl Acad Sci U S A. ...
    https://medlineplus.gov/.../condition/tubular-aggregate-myopathy - Genetics
  4. Cap myopathy 
    ... of the disorder in their family. Cap disease Congenital myopathy with caps Cap myopathy National Organization for Rare Disorders (NORD) CONGENITAL MYOPATHY 4B, AUTOSOMAL RECESSIVE; CMYO4B CONGENITAL MYOPATHY 23; CMYO23 ...
    https://medlineplus.gov/genetics/condition/cap-myopathy - Genetics
  5. STAC3 disorder 
    ... Native American myopathy Genetic Testing Registry: Bailey-Bloch congenital myopathy Native American myopathy National Organization for Rare Disorders ( ...
    https://medlineplus.gov/genetics/condition/stac3-disorder - Genetics
  6. Nemaline myopathy 
    ... Testing Registry: Actin accumulation myopathy Genetic Testing Registry: Congenital myopathy 23 Genetic Testing Registry: Congenital myopathy 4B, autosomal ...
    https://medlineplus.gov/genetics/condition/nemaline-myopathy - Genetics
  7. Multiminicore disease 
    ... condition. Minicore disease Minicore myopathy MmD Multi-core congenital myopathy Multi-core disease Multi-minicore disease Multicore disease ... National Organization for Rare Disorders (NORD) ClinicalTrials.gov CONGENITAL MYOPATHY 1B, AUTOSOMAL RECESSIVE; CMYO1B CONGENITAL MYOPATHY 3 WITH ...
    https://medlineplus.gov/genetics/condition/multiminicore-disease - Genetics
  8. Rigid spine muscular dystrophy 
    ... National Organization for Rare Disorders (NORD) ClinicalTrials.gov CONGENITAL MYOPATHY 3 WITH RIGID SPINE; CMYO3 PubMed Ardissone A, ... Abbs S, Mercuri E, Muntoni F. SEPN1-related myopathies: clinical course in a large cohort of patients. Neurology. ... Citation on PubMed
    https://medlineplus.gov/.../condition/rigid-spine-muscular-dystrophy - Genetics
  9. Malignant hyperthermia 
    ... Treves S, Muntoni F. STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility. ...
    https://medlineplus.gov/genetics/condition/malignant-hyperthermia - Genetics
  10. Glycogen storage disease type IV 
    ... Bali D, Li SC, Chen YT. Non-lethal congenital hypotonia due to glycogen storage disease type IV. Am J Med Genet A. 2006 Apr 15;140(8):878-82. doi: 10.1002/ajmg. ...
    https://medlineplus.gov/.../glycogen-storage-disease-type-iv - Genetics