Genetics of Inherited Muscle Disease

Study ID Alternative Stable ID Type
phs000655 Probands

Study Description

The samples are drawn from a collection of patients with a heterogeneous set of neuromuscular disorders, including congenital muscular dystrophy, congenital myopathy, limb-girdle muscular dystrophy, Emery-Dreifuss muscular dystrophy, and arthrogryposis, along with unaffected parents and siblings in some cases. The samples were collected by the following clinicians affiliated with the associated institutes:

  1. Kathryn North and Nigel Clarke (Institute for Neuroscience and Muscle Research, Children's Hospital at Westmead, Australia)
  2. Hanns Lochmuller and Kate Bushby (The Newcastle Muscle Centre, Newcastle University, UK)
  3. Peter Kang (Boston Children's Hospital)
  4. Carsten Bonnemann (National Institutes of Health, Bethesda, MD, USA)

All exome sequencing was performed at the Broad Institute of Harvard and MIT; samples sequence capture was performed using Agilent SureSelect Human All Exon Kit v2 or Illumina's Rapid Capture Exome enrichment kit and sequencing was performed on an Illumina HiSeq 2000. In addition some samples ... (Show More)

Archive Link Archive Accession
dbGaP phs000655

Who archives the data?

There are no publications available