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Results 1 - 10 of 43 for Muscular atrophy
  1. SMN1 gene 
    ... SMN1 gene have been found to cause spinal muscular atrophy. This condition is characterized by a loss of ... movement (skeletal muscles) that worsens with age. Spinal muscular atrophy has a wide range of severity. There are ...
    https://medlineplus.gov/genetics/gene/smn1 - Genetics
  2. SMN2 gene 
    ... of the SMN2 gene do not cause spinal muscular atrophy, but they modify the severity of the disorder. ... movement (skeletal muscles) that worsens with age. Spinal muscular atrophy has a wide range of severity. There are ...
    https://medlineplus.gov/genetics/gene/smn2 - Genetics
  3. GARS1 gene 
    ... cause a condition called GARS1 infantile-onset spinal muscular atrophy (also known as infantile spinal muscular atrophy, James type). Affected individuals often show weak muscle ...
    https://medlineplus.gov/genetics/gene/gars1 - Genetics
  4. BICD2 gene 
    ... BICD2 gene have been found to cause spinal muscular atrophy with lower extremity predominance (SMA-LED). This condition ... ClinVar Martinez-Carrera LA, Wirth B. Dominant spinal muscular atrophy is caused by mutations in BICD2, an important ...
    https://medlineplus.gov/genetics/gene/bicd2 - Genetics
  5. TRPV4 gene 
    ... Marie-Tooth disease type 2C, congenital distal spinal muscular atrophy, which is characterized by weakness of muscles in the legs and hips, and scapuloperoneal spinal muscular atrophy, which involves weakness and wasting (atrophy) of muscles ...
    https://medlineplus.gov/genetics/gene/trpv4 - Genetics
  6. UBA1 gene 
    ... been reported to cause X-linked infantile spinal muscular atrophy. This condition is characterized by severe muscle weakness ... gene variants that cause X-linked infantile spinal muscular atrophy are inherited and present in all cells in ...
    https://medlineplus.gov/genetics/gene/uba1 - Genetics
  7. IGHMBP2 gene 
    ... IGHMBP2 gene have been found to cause spinal muscular atrophy with respiratory distress type 1 (SMARD1). SMARD1 is ... A, Schuelke M. Clinical variability in distal spinal muscular atrophy type 1 (DSMA1): determination of steady-state IGHMBP2 ...
    https://medlineplus.gov/genetics/gene/ighmbp2 - Genetics
  8. AR gene 
    ... have been found to cause spinal and bulbar muscular atrophy. This condition affects specialized nerve cells that control ... AR gene variants that cause spinal and bulbar muscular atrophy are an expansion of the CAG trinucleotide repeat ...
    https://medlineplus.gov/genetics/gene/ar - Genetics
  9. DYNC1H1 gene 
    ... been found to cause a condition called spinal muscular atrophy with lower extremity predominance (SMA-LED). This condition ... the tail domain of DYNC1H1 cause dominant spinal muscular atrophy. Neurology. 2012 May 29;78(22):1714-20. ...
    https://medlineplus.gov/genetics/gene/dync1h1 - Genetics
  10. ASAH1 gene 
    ... ASAH1 gene have been found to cause spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME). This condition ... for clinical, genetic and biochemical variability in spinal muscular atrophy with progressive myoclonic epilepsy. Clin Genet. 2014 Dec; ...
    https://medlineplus.gov/genetics/gene/asah1 - Genetics
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