scapuloperoneal SMA

Researchers have identified different mutations in a gene called TRPV4 as causing type 2C CMT and two rare forms of SMA.

posted on January 17, 2010 - 1:46am
Three teams of researchers in the United States and Europe have identified specific mutations in a chromosome-12 gene for the TRPV4 protein that tie together the origins of type 2C Charcot-Marie-Tooth disease (CMT2C) and two rare forms of spinal muscular atrophy (SMA).

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