Clinical and electrophysiological characteristics of autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2B) that maps to chromosome 19q13.3

Dyck, 1993, Hereditary motor and sensory neuropathies, 1094 Harding, 1980, The clinical features of hereditary motor and sensory neuropathy types I and II, Brain, 103, 259, 10.1093/brain/103.2.259 Lupski, 1999, Charcot-Marie-Tooth polyneuropathy: duplication, gene dosage, and genetic heterogeneity, Pediatr Res, 45, 159, 10.1203/00006450-199902000-00001 Vance, 1999, Charcot-Marie-Tooth disease type 2, Ann NY Acad Sci, 883, 42, 10.1111/j.1749-6632.1999.tb08565.x Reilly, 2000, Classification of the hereditary motor and sensory neuropathies, Curr Opin Neurol, 13, 561, 10.1097/00019052-200010000-00009 Marrosu, 1998, Charcot-Marie-Tooth disease type 2 associated with mutation of the myelin protein zero gene, Neurology, 50, 1397, 10.1212/WNL.50.5.1397 De Jonghe, 1999, The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype, Brain, 122, 281, 10.1093/brain/122.2.281 Kwon, 1995, Assignment of a second Charcot-Marie-Tooth type II locus to chromosome 3q, Am J Hum Genet, 57, 853 Ionasescu, 1996, Autosomal dominant Charcot-Marie-Tooth axonal neuropathy mapped on chromosome 7p (CMT2D), Hum Mol Genet, 5, 1373, 10.1093/hmg/5.9.1373 Dyck, 1994, Hereditary motor and sensory neuropathy with diaphragm and vocal cord paresis, Ann Neurol, 35, 608, 10.1002/ana.410350515 Bouhouche, 1999, A locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 1q21.2–q21.3, Am J Hum Genet, 65, 722, 10.1086/302542 Barhoumi, 2001, Linkage of a new locus for autosomal recessive axonal form of Charcot-Marie-Tooth disease to chromosome 8q21.3, Neuromuscul Disord, 11, 27, 10.1016/S0960-8966(00)00162-0 De Sandre-Giovannoli, 2002, 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, Am J Hum Genet, 70, 726, 10.1086/339274 Cuesta, 2002, The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Carcot-Marie-Tooth type 4A disease, Nat Genet, 30, 22, 10.1038/ng798 Sevilla, 2001, Clinical and genetic studies in three Spanish families with severe autosomal recessive Charcot- Marie-Tooth axonal neuropathy, Acta Myologica, 20, 49 Leal, 2001, A second locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 19q13.3, Am J Hum Genet, 68, 269, 10.1086/316934 Preston, 1998 Griffin, 1993, Interactions between axons and Schwann cells, 317 Mersiyanova, 2000, A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene, Am J Hum Genet, 67, 37, 10.1086/302962 Zhao, 2001, Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta, Cell, 105, 587, 10.1016/S0092-8674(01)00363-4 Hayasaka, 1993, Mutation of the myelin P0 gene in Charcot-Marie-Tooth neuropathy type 1B, Hum Mol Genet, 2, 1369, 10.1093/hmg/2.9.1369 Hayasaka, 1993, Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene, Nat Genet, 5, 31, 10.1038/ng0993-31 Rautenstrauss, 1994, Identification of a de novo insertional mutation in P0 in a patient with a Dejerine-Sottas syndrome (DSS) phenotype, Hum Mol Genet, 3, 1701, 10.1093/hmg/3.9.1701 Hayasaka, 1993, De novo mutation of the myelin P0 gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III), Nat Genet, 5, 266, 10.1038/ng1193-266 Warner, 1996, Clinical phenotypes of different MPZ (P0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination, Neuron, 17, 451, 10.1016/S0896-6273(00)80177-4 Baxter, 2002, Ganglioside-induced differentiation-associated protein 1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21, Nat Genet, 30, 21, 10.1038/ng796