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Results 1 - 6 of 6 for Severe congenital nemaline myopathy
  1. Nemaline myopathy 
    ... MYOPATHY 2; NEM2 NEMALINE MYOPATHY 5A, AUTOSOMAL RECESSIVE, SEVERE INFANTILE; NEM5A NEMALINE MYOPATHY 7; NEM7 NEMALINE MYOPATHY 6; NEM6 CONGENITAL MYOPATHY 4B, AUTOSOMAL RECESSIVE; CMYO4B CONGENITAL MYOPATHY 23; ...
    https://medlineplus.gov/genetics/condition/nemaline-myopathy - Genetics
  2. ACTA1 gene 
    ... Navarro C, Nishino I, Lochmuller H, Laing NG. Severe nemaline myopathy caused by mutations of the stop codon of ...
    https://medlineplus.gov/genetics/gene/acta1 - Genetics
  3. Actin-accumulation myopathy 
    ... their family. Actin filament aggregate myopathy Actin myopathy Congenital myopathy with excess of thin filaments Nemaline myopathy 3 Genetic Testing Registry: Actin accumulation myopathy ...
    https://medlineplus.gov/.../condition/actin-accumulation-myopathy - Genetics
  4. Intranuclear rod myopathy 
    ... disorder in their family. Intranuclear nemaline rod myopathy Nemaline myopathy with exclusively intranuclear rods Genetic Testing Registry: Actin accumulation myopathy National Organization for Rare Disorders (NORD) CONGENITAL MYOPATHY 2A, TYPICAL, AUTOSOMAL DOMINANT; CMYO2A PubMed Feng ...
    https://medlineplus.gov/genetics/condition/intranuclear-rod-myopathy - Genetics
  5. Cap myopathy 
    Cap myopathy is a disorder that primarily affects skeletal muscles, which are muscles that the body uses for movement. People with cap myopathy have muscle ...
    https://medlineplus.gov/genetics/condition/cap-myopathy - Genetics
  6. Patient support and advocacy groups 
    ... National Urea Cycle Disorders Foundation NBIA Disorders Association Nemaline Myopathy Support Group Nerve Tumors UK Neurofibromatosis Midwest NF ...
    https://medlineplus.gov/about/general/genetics/supportadvocacygroups -