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Results 1 - 10 of 11 for Genetic neuromuscular disease
  1. ... Oculopharyngeal Muscular Dystrophy -Consequences in Clinical Diagnosis and ... disease severity in oculopharyngeal muscular dystrophy. Neurology. 2017 Jan ...
  2. ... Mickelson JR, Tanji K, DiMauro S. Fatal infantile neuromuscular presentation of glycogen storage disease type IV. Neuromuscul Disord. 2004 Apr;14(4):253-60. doi: 10.1016/j.nmd.2003.12.006. Citation on PubMed
  3. ... doi: 10.1002/mus.23306. Citation on PubMed Neuromuscular Disease Center, Washington University Opal P. GAN-Related Neurodegeneration. ... 11. Citation on PubMed Yiu EM, Ryan MM. Genetic axonal neuropathies and neuronopathies of pre-natal and ...
  4. Pseudocholinesterase deficiency is a condition that results in increased sensitivity to certain muscle relaxant drugs used during general anesthesia, called choline esters. ...
  5. Malignant hyperthermia is a severe reaction to particular anesthetic drugs that are often used during surgery and other invasive procedures. Specifically, this ...
  6. ... show signs and symptoms of the condition. CCFDN Genetic Testing Registry: Congenital cataracts-facial dysmorphism-neuropathy syndrome ... cataracts facial dysmorphism neuropathy syndrome, a novel complex genetic disease in Balkan Gypsies: clinical and electrophysiological observations. ...
  7. Schwartz-Jampel syndrome is a rare condition characterized by permanent muscle stiffness (myotonia) and bone abnormalities known as chondrodysplasia. The signs ...
  8. ... condition. Escobar syndrome Familial pterygium syndrome Pterygium syndrome Genetic Testing Registry: Autosomal recessive multiple pterygium syndrome Genetic ...
  9. ... myopathy Titinopathy & early-onset myopathy with fatal cardiomyopathy Genetic Testing Registry: Early-onset myopathy with fatal cardiomyopathy ...
  10. ... Glycogen debrancher deficiency GSD III GSD3 Limit dextrinosis Genetic Testing Registry: Glycogen storage disease type III Glycogen ... Toscano A, Bresolin N, Comi GP. Hepatic and neuromuscular forms of glycogenosis ... SC, Derks TGJ. Glycogen Storage Disease Type III. 2010 Mar 9 [updated 2022 Jan ...
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