نتایج جستجو برای: pmp22

تعداد نتایج: 356  

Journal: :Journal of medical genetics 2002
N Vandenberghe M Upadhyaya A Gatignol L Boutrand M Boucherat G Chazot A Vandenberghe P Latour

Hereditary motor and sensory neuropathies (HMSN) comprise a wide clinical spectrum of related disorders with defects in peripheral nerve myelination. More than 250 distinct mutations of the peripheral myelin protein 22 (PMP22), myelin protein zero (MPZ/P0), and connexin 32 (Cx32/GJB1) genes have been reported in patients diagnosed with different forms of hereditary motor and sensory neuropathie...

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