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Expanding the phenotype associated with the NEFL mutation: neuromuscular disease in a family with overlapping myopathic and neurogenic findings.

Agrawal, Pankaj, Mugdha Joshi, Nicholas Marinakis, Klaus Schmitz-Abe, Pedro Ciarlini, Jane Sargent, Kyriacos Markianos, Umberto De Girolami, David Chad, and Alan Beggs. 2014. “Expanding the Phenotype Associated With the NEFL Mutation: Neuromuscular Disease in a Family With Overlapping Myopathic and Neurogenic Findings.”. JAMA Neurol 71 (11): 1413-20.