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Results 1 - 10 of 22 for Congenital myopathy
  1. Congenital fiber-type disproportion 
    ... type disproportion have an affected relative. CFTD CFTDM Congenital myopathy with fiber type disproportion Genetic Testing Registry: Congenital myopathy with fiber type disproportion Congenital fiber-type disproportion ...
    https://medlineplus.gov/.../congenital-fiber-type-disproportion - Genetics
  2. 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
  3. 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
  4. 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
  5. 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
  6. 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
  7. Central core disease 
    ... thought to be the most common of the congenital myopathies, which are a group of muscle disorders that ... weakness very early in life. As a group, congenital myopathies affect 6 per 100,00 newborns. Mutations in ...
    https://medlineplus.gov/genetics/condition/central-core-disease - Genetics
  8. Centronuclear myopathy 
    ... Genetic Testing Registry: Centronuclear myopathy Genetic Testing Registry: Congenital myopathy with internal nuclei and atypical cores Genetic Testing ...
    https://medlineplus.gov/genetics/condition/centronuclear-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. Early-onset myopathy with fatal cardiomyopathy 
    ... fatal cardiomyopathy National Organization for Rare Disorders (NORD) CONGENITAL MYOPATHY 5 WITH CARDIOMYOPATHY; CMYO5 PubMed Carmignac V, Salih ... Distinguishing cardiac features of a novel form of congenital muscular dystrophy (Salih cmd). ... 10.1007/s002460010233. Citation on PubMed
    https://medlineplus.gov/...-onset-myopathy-with-fatal-cardiomyopathy - Genetics
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