University of Miami – The Saporta CMT Stem Cell Laboratory is a state-of-the-art facility working to develop iPSc’s for CMT4A (GDAP1) and CMT6 (C12orf65, also known as MTRFR gene).

Both subtypes of CMT require models to test various therapeutics. HNF has developed these models to support multiple collaborations amongst Dr. Saporta and within HNF’s TRIAD research partnerships.

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Do You Have Charcot-Marie-Tooth Type 4 (CMT4)? – We Need Your Help

Autosomal recessive demyelinating CMT4 patients present with earlyonset and slowly progressing symptoms. These include progressive distally accentuated weakness and atrophy of muscles in the lower limbs. In addition, patients may have weakness and atrophy of hands, sensory loss and pes cavus (high-arched feet), and walking difficulties. Further information on CMT4 can be found at Orphanet.