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Results 1 - 10 of 11 for Neuromuscular disease
  1. Giant axonal neuropathy 
    ... doi: 10.1002/mus.23306. Citation on PubMed Neuromuscular Disease Center, Washington University Opal P. GAN-Related Neurodegeneration. ...
    https://medlineplus.gov/genetics/condition/giant-axonal-neuropathy - Genetics
  2. Glycogen storage disease type IV 
    ... Mickelson JR, Tanji K, DiMauro S. Fatal infantile neuromuscular presentation of glycogen storage disease type IV. Neuromuscul Disord. 2004 Apr;14(4): ...
    https://medlineplus.gov/.../glycogen-storage-disease-type-iv - Genetics
  3. Oculopharyngeal muscular dystrophy 
    ... 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/.../oculopharyngeal-muscular-dystrophy - Genetics
  4. Glycogen storage disease type III 
    ... Toscano A, Bresolin N, Comi GP. Hepatic and neuromuscular forms of glycogenosis type III: nine mutations in AGL. Hum Mutat. 2006 Jun;27(6):600-1. doi: 10.1002/humu.9426. Citation on PubMed Schreuder AB, Rossi A, Grunert SC, Derks TGJ. Glycogen Storage Disease Type III. 2010 Mar 9 [updated 2022 Jan ...
    https://medlineplus.gov/.../glycogen-storage-disease-type-iii - Genetics
  5. Central core disease 
    ... 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/condition/central-core-disease - Genetics
  6. Early-onset myopathy with fatal cardiomyopathy 
    ... Hackman P. Increasing Role of Titin Mutations in Neuromuscular Disorders. J Neuromuscul Dis. 2016 Aug ... Citation on PubMed
    https://medlineplus.gov/...-onset-myopathy-with-fatal-cardiomyopathy - Genetics
  7. Congenital cataracts, facial dysmorphism, and neuropathy 
    ... 007. Citation on PubMed Navarro C, Teijeira S. Neuromuscular ... disease in Balkan Gypsies: clinical and electrophysiological observations. Ann ...
    https://medlineplus.gov/...taracts-facial-dysmorphism-and-neuropathy - Genetics
  8. Pseudocholinesterase deficiency 
    ... enzyme can be impaired by kidney or liver disease, malnutrition, major burns, cancer, or certain drugs. ... (BChE) in a family, due to prolonged neuromuscular blockade after the use of succinylcholine. Genet Mol ...
    https://medlineplus.gov/.../pseudocholinesterase-deficiency - Genetics
  9. Multiple pterygium syndrome 
    ... associated with this condition. The cause of the disease in these individuals is unknown. ... PM, Brueton LA, Bjelogrlic P, Pomroy P, Sewry CA. Diversity of neuromuscular pathology in lethal multiple pterygium syndrome. Pediatr Dev ...
    https://medlineplus.gov/.../condition/multiple-pterygium-syndrome - Genetics
  10. Schwartz-Jampel syndrome 
    Schwartz-Jampel syndrome is a rare condition characterized by permanent muscle stiffness (myotonia) and bone abnormalities known as chondrodysplasia. The signs ...
    https://medlineplus.gov/genetics/condition/schwartz-jampel-syndrome - Genetics
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