Skip navigation

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

Results 1 - 10 of 10 for neuromuscular diseases
  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. CHRNE gene 
    ... cells and plays a critical role in the neuromuscular junction, which is the area where signaling between ... which impairs cell-to-cell communication at the neuromuscular junction. Decreased signaling can lead to a decrease ...
    https://medlineplus.gov/genetics/gene/chrne - Genetics
  5. TTN gene 
    ... Hackman P. Increasing Role of Titin Mutations in Neuromuscular Disorders. J Neuromuscul Dis. 2016 Aug 30;3( ...
    https://medlineplus.gov/genetics/gene/ttn - Genetics
  6. IGHMBP2 gene 
    ... is a ribosome-associated helicase inactive in the neuromuscular disorder distal SMA type 1 (DSMA1). Hum Mol ... 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. AGL gene 
    ... Toscano A, Bresolin N, Comi GP. Hepatic and neuromuscular forms of glycogenosis type III: nine mutations in ...
    https://medlineplus.gov/genetics/gene/agl - Genetics
  8. TPM3 gene 
    ... of type 1 fiber atrophy (hypotrophy) in childhood neuromuscular disorders. Brain Dev. 2001 Aug;23(5):298- ... KN, Clarke NF. Evidence for a dominant negative disease mechanism in cap myopathy due to TPM3. Neuromuscul ...
    https://medlineplus.gov/genetics/gene/tpm3 - Genetics
  9. MYH7 gene 
    ... C, Towbin JA. Left ventricular noncompaction cardiomyopathy: cardiac, neuromuscular, and genetic factors. Nat Rev Cardiol. 2017 Apr; ... WJ. Hypertrophic cardiomyopathy: the genetic determinants of clinical disease expression. Nat Clin Pract Cardiovasc Med. 2008 Mar; ...
    https://medlineplus.gov/genetics/gene/myh7 - Genetics
  10. MYBPC3 gene 
    ... C, Towbin JA. Left ventricular noncompaction cardiomyopathy: cardiac, neuromuscular, and genetic factors. Nat Rev Cardiol. 2017 Apr; ... WJ. Hypertrophic cardiomyopathy: the genetic determinants of clinical disease expression. Nat Clin Pract Cardiovasc Med. 2008 Mar; ...
    https://medlineplus.gov/genetics/gene/mybpc3 - Genetics