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Results 41 - 50 of 68 for Progressive muscular dystrophy
  1. PLEC gene 
    ... Condition MedlinePlus Genetics provides information about Limb-girdle muscular dystrophy More About This Health Condition Mutations in the ... of epidermolysis bullosa known as epidermolysis bullosa with muscular dystrophy. In addition to skin blistering, people with this ...
    https://medlineplus.gov/genetics/gene/plec - Genetics
  2. DUX4 gene 
    ... 4, which contains the DUX4 gene, cause facioscapulohumeral muscular dystrophy. This disorder is characterized by muscle weakness and ... hypomethylation of the D4Z4 region results in facioscapulohumeral muscular dystrophy only when it occurs with a "permissive" chromosome ...
    https://medlineplus.gov/genetics/gene/dux4 - Genetics
  3. PABPN1 gene 
    ... PABPN1 gene have been found to cause oculopharyngeal muscular dystrophy. This condition is characterized by muscle weakness that ... the muscle weakness seen in people with oculopharyngeal muscular dystrophy. In severe cases, it is likely that intranuclear ...
    https://medlineplus.gov/genetics/gene/pabpn1 - Genetics
  4. LARGE1 gene 
    ... of a group of disorders known as congenital muscular dystrophies. Walker-Warburg syndrome causes skeletal muscle weakness and ... involved in a less severe form of congenital muscular dystrophy known as congenital muscular dystrophy type 1D (MDC1D). ...
    https://medlineplus.gov/genetics/gene/large1 - Genetics
  5. FHL1 gene 
    ... gene have been found to cause Emery-Dreifuss muscular dystrophy. This condition affects skeletal and cardiac muscle, causing ... the FHL1 gene mutations that cause Emery-Dreifuss muscular dystrophy change single protein building blocks (amino acids) in ...
    https://medlineplus.gov/genetics/gene/fhl1 - Genetics
  6. SMCHD1 gene 
    ... SMCHD1 gene have been found to cause facioscapulohumeral muscular dystrophy, a disorder characterized by muscle weakness and wasting ( ... hypomethylation of the D4Z4 region results in facioscapulohumeral muscular dystrophy only when it occurs in people who also ...
    https://medlineplus.gov/genetics/gene/smchd1 - Genetics
  7. SELENON gene 
    ... mutations have been found to cause rigid spine muscular dystrophy 1 (RSMD1). In people with this disorder, the ... N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing ...
    https://medlineplus.gov/genetics/gene/selenon - Genetics
  8. Rippling muscle disease 
    ... of other muscle disorders such as limb-girdle muscular dystrophy. The prevalence of rippling muscle disease is unknown. ... caveolinopathies including CAV3-related distal myopathy, limb-girdle muscular dystrophy, isolated hyperCKemia, and a heart disorder called hypertrophic ...
    https://medlineplus.gov/genetics/condition/rippling-muscle-disease - Genetics
  9. CAV3 gene 
    ... Condition MedlinePlus Genetics provides information about Limb-girdle muscular dystrophy More About This Health Condition MedlinePlus Genetics provides ...
    https://medlineplus.gov/genetics/gene/cav3 - Genetics
  10. Where can I read more about the diseases and traits covered in my direct-to-consumer genetic testing report?: ... 
    ... intolerance Junctional epidermolysis bullosa Leigh syndrome Limb-girdle muscular dystrophy Medium-chain acyl-CoA dehydrogenase deficiency , also called ...
    https://medlineplus.gov/.../dtcgenetictesting/dtcghrpages - Genetics
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