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Results 1 - 4 of 4 for Facioscapulohumeral muscular dystrophy 2
  1. Facioscapulohumeral muscular dystrophy 
    ... Testing Registry: Facioscapulohumeral muscular dystrophy Genetic Testing Registry: Facioscapulohumeral muscular dystrophy 2 Facioscapulohumeral dystrophy National Organization for Rare Disorders (NORD) ...
    https://medlineplus.gov/.../facioscapulohumeral-muscular-dystrophy - Genetics
  2. Chromosome 4 
    ... of the usual 11 to 100 repeats. In facioscapulohumeral muscular dystrophy type 2 (FSHD2), hypomethylation is most often a result of ... may have two "permissive" copies of chromosome 4, two "non-permissive" copies, or one of each. Facioscapulohumeral muscular dystrophy can only occur in people who have at ...
    https://medlineplus.gov/genetics/chromosome/4 - Genetics
  3. DUX4 gene 
    ... mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2. Nat Genet. 2012 Dec;44(12):1370-4. ...
    https://medlineplus.gov/genetics/gene/dux4 - Genetics
  4. SMCHD1 gene 
    ... mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2. Nat Genet. 2012 Dec;44(12):1370-4. ... Talkowski ME. SMCHD1 mutations associated with a rare muscular dystrophy can also cause ... dystrophy: the path to consensus on pathophysiology. Skelet ...
    https://medlineplus.gov/genetics/gene/smchd1 - Genetics