| Title | Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease. |
|---|---|
| Authors | Züchner S, Noureddine M, Kennerson M, Verhoeven K, Claeys K, De Jonghe P, Merory J, Oliveira SA, Speer MC, Stenger JE, Walizada G, Zhu D, Pericak-Vance MA, Nicholson G, Timmerman V, Vance JM |
| Reference | Nat Genet 37: 289-294, 2005 (PubMed ID: 15731758 ) |
| DNM2: (Asp551_Glu553del; Asp551fs) (Lys558del) (Lys558Glu) | |
| Mutations |
