Skip navigation

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

Results 1 - 10 of 10 for Congenital myopathy with fiber type disproportion
  1. Congenital fiber-type disproportion 
    ... Testing Registry: Congenital myopathy with fiber type disproportion Congenital fiber-type disproportion myopathy National Organization for Rare Disorders (NORD) ClinicalTrials.gov ...
    https://medlineplus.gov/.../congenital-fiber-type-disproportion - Genetics
  2. Muscle Disorders (National Library of Medicine)  
    Your muscles help you move and help your body work. Different types of muscles have different jobs. There are many problems that can affect muscles. Muscle ...
    https://medlineplus.gov/muscledisorders.html - Health Topics
  3. Find a Neuromuscular Disease (Muscular Dystrophy Association)  
    Neuromuscular Disorders/Start Here ... Neuromuscular Disorders ... Muscular Dystrophy Association ... MDA is the #1 health nonprofit advancing research, care and advocacy ...
    https://www.mda.org/disease/list - External Health Links
  4. TPM3 gene 
    ... contraction leads to muscle weakness in people with congenital fiber-type disproportion. More About This Health Condition Mutations in the TPM3 gene are also associated with a condition called nemaline myopathy. People with nemaline myopathy typically have muscle weakness ...
    https://medlineplus.gov/genetics/gene/tpm3 - Genetics
  5. SELENON gene 
    ... This Health Condition MedlinePlus Genetics provides information about Congenital fiber-type disproportion More About This Health Condition Mutations in the SELENON gene are involved in another rare muscle disorder called desmin-related myopathy with Mallory body-like ...
    https://medlineplus.gov/genetics/gene/selenon - Genetics
  6. ACTA1 gene 
    ... contraction leads to muscle weakness in people with congenital fiber-type disproportion. More About This Health Condition At least 13 variants in the ACTA1 gene have been identified in people with intranuclear rod myopathy. These variants change single amino acids in the ...
    https://medlineplus.gov/genetics/gene/acta1 - Genetics
  7. TPM2 gene 
    ... This Health Condition MedlinePlus Genetics provides information about Congenital fiber-type disproportion More About This Health Condition MedlinePlus Genetics provides information about Nemaline myopathy More About This Health Condition At least six ...
    https://medlineplus.gov/genetics/gene/tpm2 - Genetics
  8. MYH7 gene 
    ... to muscle weakness in people with myosin storage myopathy. More About This Health Condition MedlinePlus Genetics provides information about Congenital fiber-type disproportion More About This Health Condition MedlinePlus Genetics provides ...
    https://medlineplus.gov/genetics/gene/myh7 - Genetics
  9. Rigid spine muscular dystrophy 
    ... the classic form of multiminicore disease, desmin-related myopathy with Mallory body-like inclusions, and a small subset of cases of congenital fiber-type disproportion. While these other disorders share the characteristic features ...
    https://medlineplus.gov/.../condition/rigid-spine-muscular-dystrophy - Genetics
  10. RYR1 gene 
    ... the RYR1 gene have been found to cause congenital fiber-type disproportion, a disorder that causes general muscle weakness that ... in the muscle weakness and other features of congenital fiber-type disproportion, although the role of RYR1 gene mutations in ...
    https://medlineplus.gov/genetics/gene/ryr1 - Genetics