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Results 1 - 7 of 7 for Congenital nemaline myopathy
  1. ACTA1 gene 
    ... magnetic resonance imaging and histopathology in ACTA1-related congenital nemaline myopathy. Muscle Nerve. 2014 Dec;50(6):1011-6. doi: 10.1002/mus.24353. Epub 2014 Oct 30. Citation on PubMed ... of ACTA1-related congenital fiber type disproportion. Ann Neurol. 2007 Jun;61( ...
    https://medlineplus.gov/genetics/gene/acta1 - Genetics
  2. Nemaline myopathy 
    ... 6; NEM6 CONGENITAL MYOPATHY 4B, AUTOSOMAL RECESSIVE; CMYO4B CONGENITAL MYOPATHY 23; CMYO23 NEMALINE MYOPATHY 8; NEM8 NEMALINE MYOPATHY 9; NEM9 NEMALINE ...
    https://medlineplus.gov/genetics/condition/nemaline-myopathy - Genetics
  3. TPM2 gene 
    ... Tajsharghi H, Ohlsson M, Lindberg C, Oldfors A. Congenital myopathy with nemaline rods and cap structures caused by a mutation ...
    https://medlineplus.gov/genetics/gene/tpm2 - Genetics
  4. 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
  5. 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
  6. 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
  7. 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