MUSCULAR DYSTROPHY ▲ Public Health Genomics Knowledge Base (v1.2)

Public Health Genomics Knowledge Base (v1.2)

MUSCULAR DYSTROPHY

Last Updated: Sep 22, 2016

• FDA commissioner calls for Sarepta drug study to be retracted
  StatNews, September 22, 2016
• Advances in gene therapy for muscular dystrophies.
  Abdul-Razak Hayder et al. F1000Research 2016 5
• Current and emerging treatment strategies for Duchenne muscular dystrophy.
  Mah Jean K et al. Neuropsychiatric disease and treatment 2016 121795-807
• FDA approves Sarepta’s controversial drug for Duchenne muscular dystrophy
  E Silverman, Stat News, September 19, 2016
• For two brothers with Duchenne, an FDA drug approval brings joy and relief
  J Delviscio, StatNews, September 20, 2016
• Sarepta to charge $300K for Duchenne drug. ‘We tried to be reasonable,’ CEO says
  E Silverman, StatNews, September 19, 2016
• Large copy-number variations in patients with statin-associated myopathy affecting statin myopathy-related loci.
  Stránecký V, et al. Physiological research / Academia Scientiarum Bohemoslovaca 2016 8
• Twenty-year follow-up of newborn screening for patients with muscular dystrophy.
  Chung Jeffrey et al. Muscle & nerve 2016 Apr 53(4) 570-8
• "Target" and "Sandwich" Signs in Thigh Muscles have High Diagnostic Values for Collagen VI-related Myopathies.
  Fu Jun, et al. Chinese medical journal 0 0 (15) 1811-1816
• Target resequencing of neuromuscular disease-related genes using next-generation sequencing for patients with undiagnosed early-onset neuromuscular disorders.
  Kitamura Yuri, et al. Journal of human genetics 2016 6
• [Haplotype Analysis of Oculopharyngeal Muscular Dystrophy (OPMD) Locus in Yakutia].
  Marusin A V, et al. Genetika 2016 3 (3) 376-84
• Duchenne muscular dystrophy in the Western Cape, South Africa: Where do we come from and where are we going?
  Esterhuizen A I et al. South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde 2016 106(6) 10999
• Survey on genetic counseling and health management for symptomatic and asymptomatic female dystrophinopathy carriers in Japan today.
  Kobayashi Michio et al. Rinsho shinkeigaku = Clinical neurology 2016 May
• Why Do Parents Want to Know their Child's Carrier Status? A Qualitative Study.
  Vears Danya F et al. Journal of genetic counseling 2016 May
• The emerging role of viral vectors as vehicles for DMD gene editing
  I Maggio et al, May 23, 2016

• CDC Information (4)
• CDC-Authored Pub (5)

• Human (13)
• Pathogen (0)

• Human (139)
• Pathogen (0)

• Human (21)
• Pathogen (0)

• Guidelines (3)
• Tier Table (0)
• Synthesis (1)

• Huamn (1)
• Pathogen (0)

Relevant Resources

• Cancer Genomics and Epidemiology Navigator (CGEN)
• Genetics and Genomics Competencies Center (G2C2)
• NIH Genetic Testing Registry
• NIH MedGen Database
• Online Mendelian Inheritance in Man (OMIM)
• PharmGKB