MPZ
Deellabo: | PGD DNA |
Gen (Gen Code): | MPZ |
Aliases Gen: | CHM, CMT1, CMT1B, CMT2I, CMT2J, CMT4E, CMTDI3, DSS, HMSNIB, MPP, P0 |
Gen ID (NCBI): | 4359 |
OMIM Gen ID: | 159440 |
Chromosomale locatie: | 1q23.3 |
Genetische aandoening / Analyse: | Charcot-Marie-Tooth, ziekte van, type 1B (CMT1B) |
OMIM aandoening ID: | 118200 |
Overerving: | AD |
Aliases aandoening: | CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B HEREDITARY MOTOR AND SENSORY NEUROPATHY I; HMSN I HEREDITARY MOTOR AND SENSORY NEUROPATHY IB; HMSN IB HMSN1 HMSN1B CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 1B CHARCOT-MARIE-TOOTH DISEASE, SLOW NERVE CONDUCTION TYPE, LINKED TO DUFFY PERONEAL MUSCULAR ATROPHY CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL DOMINANT, WITH FOCALLY FOLDED MYELIN SHEATHS, TYPE 1B |