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Results 1 - 10 of 12 for Congenital myopathy 11
  1. Tubular aggregate myopathy 
    ... STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis. Proc Natl Acad Sci U S A. 2014 Mar 18;111(11):4197-202. doi: 10.1073/pnas.1312520111. Epub ...
    https://medlineplus.gov/.../condition/tubular-aggregate-myopathy - Genetics
  2. Stormorken syndrome 
    ... STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis. Proc Natl Acad Sci U S A. 2014 Mar 18;111(11):4197-202. doi: 10.1073/pnas.1312520111. Epub ...
    https://medlineplus.gov/genetics/condition/stormorken-syndrome - Genetics
  3. Malignant hyperthermia 
    ... Treves S, Muntoni F. STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility. Hum Mutat. 2018 Dec;39(12):1980-1994. doi: 10.1002/humu.23635. Epub 2018 Oct 11. Citation on PubMed Zvaritch E, Gillies R, Kraeva ...
    https://medlineplus.gov/genetics/condition/malignant-hyperthermia - Genetics
  4. STAC3 disorder 
    ... Treves S, Muntoni F. STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility. Hum Mutat. 2018 Dec;39(12):1980-1994. doi: 10.1002/humu.23635. Epub 2018 Oct 11. Citation on PubMed
    https://medlineplus.gov/genetics/condition/stac3-disorder - Genetics
  5. Multiminicore disease 
    ... Naarden, The Netherlands. Neuromuscul Disord. 2004 Nov;14(11):754-66. doi: ... disorders of excitation-contraction coupling and muscle contraction. ...
    https://medlineplus.gov/genetics/condition/multiminicore-disease - Genetics
  6. Actin-accumulation myopathy 
    ... their family. Actin filament aggregate myopathy Actin myopathy Congenital myopathy with excess of thin filaments Nemaline myopathy 3 ... accumulation myopathy National Organization for Rare Disorders (NORD) CONGENITAL MYOPATHY 2A, TYPICAL, AUTOSOMAL DOMINANT; CMYO2A PubMed Bornemann A, ...
    https://medlineplus.gov/.../condition/actin-accumulation-myopathy - Genetics
  7. 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
  8. 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
  9. Intranuclear rod myopathy 
    ... accumulation myopathy National Organization for Rare Disorders (NORD) CONGENITAL MYOPATHY 2A, TYPICAL, AUTOSOMAL DOMINANT; CMYO2A PubMed Feng JJ, ... Genotype-phenotype correlations in ACTA1 mutations that cause congenital myopathies. Neuromuscul Disord. 2009 Jan;19(1):6-16. ...
    https://medlineplus.gov/genetics/condition/intranuclear-rod-myopathy - Genetics
  10. 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
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