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Results 1 - 10 of 10 for Neuromuscular disease
  1. PABPN1 gene 
    ... S, Pouget J, Eymard B; Neurologists of French Neuromuscular Reference Centers CORNEMUS and FILNEMUS. Correlation between PABPN1 genotype and disease severity in oculopharyngeal muscular dystrophy. Neurology. 2017 Jan ...
    https://medlineplus.gov/genetics/gene/pabpn1 - Genetics
  2. RYR1 gene 
    ... receptor 1 mutations, dysregulation of calcium homeostasis and neuromuscular ... YK, Nishino I. Central core disease is due to RYR1 mutations in more than ...
    https://medlineplus.gov/genetics/gene/ryr1 - Genetics
  3. EDN3 gene 
    ... genes and three intercellular signalling pathways on enteric neuromuscular ... in Waardenburg-Hirschsprung disease: is there a dosage effect of EDN3/EDNRB ...
    https://medlineplus.gov/genetics/gene/edn3 - Genetics
  4. IGHMBP2 gene 
    ... is a ribosome-associated helicase inactive in the neuromuscular disorder distal SMA ... with infantile and juvenile disease. J Mol Med (Berl). 2009 Jan;87(1): ...
    https://medlineplus.gov/genetics/gene/ighmbp2 - Genetics
  5. CHRNE gene 
    ... which impairs cell-to-cell communication at the neuromuscular junction. ... the disease compared with other affected individuals, likely because the ...
    https://medlineplus.gov/genetics/gene/chrne - Genetics
  6. MYH7 gene 
    ... C, Towbin JA. Left ventricular noncompaction cardiomyopathy: cardiac, neuromuscular, ... of clinical disease expression. Nat Clin Pract Cardiovasc Med. 2008 Mar; ...
    https://medlineplus.gov/genetics/gene/myh7 - Genetics
  7. MYBPC3 gene 
    ... C, Towbin JA. Left ventricular noncompaction cardiomyopathy: cardiac, neuromuscular, ... of clinical disease expression. Nat Clin Pract Cardiovasc Med. 2008 Mar; ...
    https://medlineplus.gov/genetics/gene/mybpc3 - Genetics
  8. AGL gene 
    ... heterogeneity of mutations in patients with glycogen storage disease type III from ... Hepatic and neuromuscular forms of glycogenosis type III: nine mutations in ...
    https://medlineplus.gov/genetics/gene/agl - Genetics
  9. TPM3 gene 
    ... of type 1 fiber atrophy (hypotrophy) in childhood neuromuscular disorders. ... dominant negative disease mechanism in cap myopathy due to TPM3. Neuromuscul ...
    https://medlineplus.gov/genetics/gene/tpm3 - Genetics
  10. TTN gene 
    ... myopathy with early respiratory failure (HMERF), an inherited disease that affects ... of Titin Mutations in Neuromuscular Disorders. J Neuromuscul Dis. 2016 Aug 30;3( ...
    https://medlineplus.gov/genetics/gene/ttn - Genetics