نتایج جستجو برای: pmp22
تعداد نتایج: 356 فیلتر نتایج به سال:
Hereditary neuropathy with liability to pressure palsy (HNPP) results from the deletion of the PMP22 gene in chromosome 17p11.2. Clinically, it presents with painless pressure palsies, typically in the 2nd and 3rd decades of life, being a rare entity in childhood. We present the case study of a six-year-old male child who presented with left hand drop that he kept for over four weeks. Electroph...
To the Editor : Charcot–Marie–Tooth type 1 (CMT1), the most frequent hereditary peripheral neuropathy, is characterized by marked clinical and genetic heterogeneity (1). Mutations in genes coding for peripheral myelin protein 22 (PMP22 ; MIM 601097), myelin protein zero (MPZ/P0 ; MIM 159440) and connexin 32 or gap junction beta 1 (Cx32/GJB1 ; MIM 304040) cause CMT1A, CMT1B and CMTX, the most co...
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