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15. Congenital myotonic dystrophy can show congenital fiber type disproportion pathology. Tominaga K; Hayashi YK; Goto K; Minami N; Noguchi S; Nonaka I; Miki T; Nishino I Acta Neuropathol; 2010 Apr; 119(4):481-6. PubMed ID: 20179953 [TBL] [Abstract][Full Text] [Related]
16. Marttila M; Win W; Al-Ghamdi F; Abdel-Hamid HZ; Lacomis D; Beggs AH Cold Spring Harb Mol Case Stud; 2019 Aug; 5(4):. PubMed ID: 31127036 [TBL] [Abstract][Full Text] [Related]
17. alpha-Skeletal muscle actin mutants causing different congenital myopathies induce similar cytoskeletal defects in cell line cultures. Vandamme D; Rommelaere H; Lambert E; Waterschoot D; Vandekerckhove J; Constantin B; Ampe C Cell Motil Cytoskeleton; 2009 Apr; 66(4):179-92. PubMed ID: 19206168 [TBL] [Abstract][Full Text] [Related]
18. Combined cap disease and nemaline myopathy in the same patient caused by an autosomal dominant mutation in the TPM3 gene. Malfatti E; Schaeffer U; Chapon F; Yang Y; Eymard B; Xu R; Laporte J; Romero NB Neuromuscul Disord; 2013 Dec; 23(12):992-7. PubMed ID: 24095155 [TBL] [Abstract][Full Text] [Related]
19. Mutations in TPM3 are a common cause of congenital fiber type disproportion. Clarke NF; Kolski H; Dye DE; Lim E; Smith RL; Patel R; Fahey MC; Bellance R; Romero NB; Johnson ES; Labarre-Vila A; Monnier N; Laing NG; North KN Ann Neurol; 2008 Mar; 63(3):329-37. PubMed ID: 18300303 [TBL] [Abstract][Full Text] [Related]