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Results 1 - 10 of 15 for Atrophic muscular disease
  1. SMN2 gene 
    ... amid diversity: Multi-study proteomic identification of conserved disease mechanisms in spinal muscular atrophy. Neuromuscul Disord. 2016 Sep;26(9):560-9. ...
    https://medlineplus.gov/genetics/gene/smn2 - Genetics
  2. ASAH1 gene 
    ... pathogenic variants associated with acid ceramidase deficiency: Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy. Hum Mutat. 2020 Sep; ...
    https://medlineplus.gov/genetics/gene/asah1 - Genetics
  3. SMN1 gene 
    ... amid diversity: Multi-study proteomic identification of conserved disease mechanisms in spinal muscular atrophy. Neuromuscul Disord. 2016 Sep;26(9):560-9. ...
    https://medlineplus.gov/genetics/gene/smn1 - Genetics
  4. TRPV4 gene 
    ... spectrum of related conditions includes Charcot-Marie-Tooth disease type 2C, congenital distal spinal muscular atrophy, which is characterized by weakness of muscles in ...
    https://medlineplus.gov/genetics/gene/trpv4 - Genetics
  5. GARS1 gene 
    ... Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V. Am J Hum Genet. 2003 May; ...
    https://medlineplus.gov/genetics/gene/gars1 - Genetics
  6. IGHMBP2 gene 
    ... A, Schuelke M. Clinical variability in distal spinal muscular atrophy type 1 (DSMA1): determination of steady-state IGHMBP2 protein levels in five patients with infantile and juvenile disease. J Mol Med (Berl). 2009 Jan;87(1): ...
    https://medlineplus.gov/genetics/gene/ighmbp2 - Genetics
  7. SMCHD1 gene 
    ... these cells, leading to progressive muscle weakness and atrophy.Studies suggest that mutations in the SMCHD1 gene can increase the severity of disease in people with the other type of facioscapulohumeral muscular dystrophy, FSHD1. FSHD1 results when the D4Z4 region ...
    https://medlineplus.gov/genetics/gene/smchd1 - Genetics
  8. DYNC1H1 gene 
    ... MedlinePlus Genetics provides information about Charcot-Marie-Tooth disease More About This Health Condition At least eight mutations in the DYNC1H1 gene have been found to cause a condition called spinal muscular atrophy with lower extremity predominance (SMA-LED). This condition ...
    https://medlineplus.gov/genetics/gene/dync1h1 - Genetics
  9. SELENON gene 
    ... and the other characteristic features of classic multiminicore disease. More About ... weaken and waste away (atrophy), and the joints in the spine develop deformities ...
    https://medlineplus.gov/genetics/gene/selenon - Genetics
  10. DCTN1 gene 
    ... CL, Fischbeck KH. Mutant dynactin in motor neuron disease. Nat Genet. 2003 ... and bulbar muscular atrophy caused by dynactin mutation. Ann Neurol. 2005 May; ...
    https://medlineplus.gov/genetics/gene/dctn1 - Genetics
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