Associated Papers
Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth.
Todd EJ et al.
Orphanet Journal of Rare Diseases, 2015
Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy.
Gupta VA et al.
American Journal of Human Genetics, 2013
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