Congenital fiber-type disproportion myopathy: A case study

Goebel, 2006, Update in hereditary childhood neuromuscular diseases, Semin Pediatr Neurol, 199 Goebel, 2002, Hereditary neuromuscular disorders in children, Semin Pediatr Neurol, 9, 79, 10.1053/spen.2002.33794 Clarke, 2003, Congenital fiber type disproportion: 30 years on, J Neuropathol Exp Neurol, 62, 977, 10.1093/jnen/62.10.977 Brooke, 1969, The histographic analysis of human muscle biopsies with regard to fiber types. Children's biopsies, Neurology, 19, 591, 10.1212/WNL.19.6.591 Dubowitz, 1973, 280 Clarke, 2011, Congenital fibre type disproportion – A syndrome at the crossroads of the congenital myopathies, Neuromusc Disord, 21, 252, 10.1016/j.nmd.2011.02.015 Jungbluth, 2011, Core myopathies, Semin Pediatr Neurol, 18, 239, 10.1016/j.spen.2011.10.005 Moghadaszadeh, 2001, Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome, Nat Genet, 29, 17, 10.1038/ng713 Sato, 2008, Congenital neuromuscular disease with uniform type 1 fiber and RYR1 mutation, Neurology, 70, 114, 10.1212/01.wnl.0000269792.63927.86 Khan, 2008, Congenital muscle fiber type disproportion in a patient with congenital central hypoventilation syndrome due to PHOX2B mutations, J Child Neurol, 23, 829, 10.1177/0883073808314895 Imoto, 2001, The significance of type 1 fiber atrophy (hypotrophy) in childhood neuromuscular disorders, Brain Dev, 23, 298, 10.1016/S0387-7604(01)00213-3 Kim, 2000, Muscle fiber type disproportion with an autosomal dominant inheritance, Yonsei Med J, 41, 281, 10.3349/ymj.2000.41.2.281 Clarke, 2011, Congenital fiber-type disproportion, Semin Pediatr Neurol, 18, 264, 10.1016/j.spen.2011.10.008 Lawlor, 2010, Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion, Hum Mutat, 31, 176, 10.1002/humu.21157 Clarke, 2008, Mutations in TPM3 are a common cause of congenital fiber type disproportion, Ann Neurol, 63, 329, 10.1002/ana.21308 Taylor, 2013, Congenital fiber-type disproportion, GeneReviews, 11