Inherited Peripheral Neuropathies Mutation Database

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Title Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse.
Authors De Sandre-Giovannoli A, Chaouch M, Kozlov S, Vallat JM, Tazir M, Kassouri N, Szepetowski P, Hammadouche T, Vandenberghe A, Stewart CL, Grid D, Levy N
Reference Am J Hum Genet 70: 726-736, 2002 (PubMed ID: 11799477 )
LMNA: ([Arg298Cys]+[Arg298Cys])

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