Distinctive genetic and clinical features of CMT4J: A severe neuropathy caused by mutations in the PI(3,5)P2 phosphatase FIG4

Garth Nicholson, Guy M. Lenk, Stephen W. Reddel, Adrienne E. Grant, Charles F. Towne, Cole J. Ferguson, Ericka Simpson, Angela Scheuerle, Michelle Yasick, Stuart Hoffman, Randall Blouin, Carla Brandt, Giovanni Coppola, Leslie G. Biesecker, Sat D. Batish, Miriam H. Meisler

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