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Results 1 - 5 of 5 for "Charcot-Marie-Tooth" disease dominant intermediate D
  1. ... CHN1 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2; CMT4B2 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE D; CMTDID CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C; ...
  2. ... disease known as type 2I, type 2J, and dominant intermediate D. These forms of Charcot-Marie-Tooth disease, which often do not become evident until adulthood, ...
  3. ... SA, Speer MC, Stenger JE, Walizada G, Zhu D, Pericak-Vance MA, Nicholson G, Timmerman V, Vance JM. Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease. Nat Genet. 2005 Mar;37(3):289-94. ...
  4. ... a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease. Am J Hum Genet. 2011 Aug 12;89( ...
  5. ... of the lamina. MedlinePlus Genetics provides information about Charcot-Marie-Tooth disease More About This Health Condition More than 130 ... the gene encoding lamins A/C in autosomal dominant limb girdle muscular ... Boccaccio I, Boyer A, Genevieve D, Hadj-Rabia S, Gaudy-Marqueste C, Smitt HS, ...