Excerpt | Reference |
"The congenital nemaline myopathies are rare hereditary muscle disorders characterized by the presence in the muscle fibers of nemaline bodies consisting of proteins derived from the Z disc and thin filament." | ( Akkari, PA; Bang, ML; Beggs, AH; Centner, T; de la Chapelle, A; Donner, K; Dubowitz, V; Fardeau, M; Hanefeld, F; Hilpelä, P; Labeit, S; Laing, NG; Muntoni, F; Odent, S; Pelin, K; Sewry, C; Urtizberea, JA; Wallgren-Pettersson, C; Wattanasirichaigoon, D; Wilton, SD, 1999) |
"Nemaline myopathy is a rare, clinically heterogeneous congenital skeletal muscle disease with associated muscle weakness, characterized by the presence of nemaline rods in muscle fibers." | ( Greenfield, NJ; Hitchcock-DeGregori, SE; Liu, Y; Moraczewska, J, 2000) |
"Nemaline myopathy is a hereditary disease of skeletal muscle defined by a distinct pathology of electron-dense accumulations within the sarcomeric units called rods, muscle weakness and, in most cases, a slow oxidative (type 1) fiber predominance." | ( Corbett, MA; Dunglison, GF; Gunning, PW; Hardeman, EC; Joya, JE; North, KN; Robinson, CS; Schnell, C; Stewart, AW; Yang, N, 2001) |
"Nemaline myopathy is clinically and genetically heterogeneous." | ( Brown, SC; Jungbluth, H; Labeit, S; Manzur, A; Muntoni, F; Pelin, K; Sewry, CA; Wallgren-Pettersson, C, 2001) |
"Nemaline myopathy is a structural congenital myopathy which may show both autosomal dominant and autosomal recessive inheritance patterns." | ( Bang, ML; Carvalho, M; Donner, K; Fireman, MA; Gurgel-Giannetti, J; Labeit, S; Marie, SK; Oliveira, AS; Pelin, K; Reed, U; Vainzof, M; Wallgren-Pettersson, C; Zanoteli, E; Zatz, M, 2001) |
"Nemaline myopathy is clinically and genetically heterogenous." | ( Buxmann, H; Laing, NG; Loewenich, V; Nowak, KJ; Schlösser, R; Schlote, W; Sewell, A, 2001) |
"Nemaline myopathy is a congenital neuromuscular disorder, which primarily affects the thin filaments." | ( de Haan, A; Gerrits, K; Gommans, I; van Engelen, B, 2003) |
"Nemaline myopathy is a human neuromuscular disorder associated with muscle weakness, Z-line accumulations (rods), and myofibrillar disorganization." | ( Akkari, PA; Cooper, ST; Corbett, MA; Domazetovska, A; Gunning, PW; Hardeman, EC; Laing, NG; North, KN, 2005) |
"Nemaline myopathy is a rare disorder of varying severity and genetic etiology." | ( Bouldin, AA; Gospe, SM; Laing, N; Parisi, MA; Patterson, K, 2007) |
"Nemaline myopathy is defined by the presence of nemaline bodies, or rods, on muscle biopsy." | ( Ellaway, C; Iannaccone, ST; Ketteridge, D; Kornberg, AJ; North, KN; Roddick, LG; Rudge, S; Ryan, MM; Sy, C, 2008) |
"Nemaline myopathy is a neuromuscular disorder, characterized by muscle weakness and hypotonia and is, in 20% of the cases, caused by mutations in the gene encoding alpha-skeletal muscle actin, ACTA1." | ( Ampe, C; Cognard, C; Constantin, B; Lambert, E; Rommelaere, H; Vandamme, D; Vandekerckhove, J; Waterschoot, D, 2009) |
"Nemaline myopathy is one of the most common and severe non-dystrophic muscle diseases of childhood." | ( Brooks, SV; Dowling, JJ; Nelson, DD; Telfer, WR; Waugh, T, 2012) |
"Nemaline myopathy is the most common congenital skeletal muscle disease, and mutations in the nebulin gene account for 50% of all cases." | ( Bendahan, D; Brohm, K; Cozzone, PJ; De Winter, JM; Giannesini, B; Gineste, C; Gondin, J; Granzier, H; Gretz, N; Jubeau, M; Kohl, C; Labeit, S; Le Fur, Y; Ottenheijm, CA; Pecchi, E; Stienen, GJ; Vilmen, C; Witt, CC, 2013) |
"Nemaline myopathy is a type of the heterogeneous group of congenital myopathies." | ( Farkas, K; Gajda, A; Gergev, G; Hortobágyi, T; Horváth, E; Nagy, N; Szabó, H; Széll, M; Sztriha, L, 2015) |
"Nemaline myopathy is the most common disease entity among non-dystrophic skeletal muscle congenital diseases." | ( Banzet, S; Bendahan, D; Cozzone, PJ; Gineste, C; Gondin, J; Hardeman, EC; Koulmann, N; Le Fur, Y; Ottenheijm, C; Pecchi, E; Vilmen, C, 2014) |
"Sporadic late-onset nemaline myopathy is an uncommon disease." | ( Nagai, T; Sunada, Y, 2015) |
"Nemaline myopathy is among the most common non-dystrophic congenital myopathies, and is characterized by the presence of nemaline rods in skeletal muscles fibers, general muscle weakness, and hypotonia." | ( de Winter, JM; Granzier, H; Joureau, B; Ottenheijm, CA; Stam, K, 2017) |
"Nemaline myopathies are heterogeneous congenital muscle disorders causing skeletal muscle weakness and, in some cases, death soon after birth." | ( Bryson-Richardson, RJ; McKaige, EA; Oorschot, V; Ramm, G; Sztal, TE; Williams, C, 2018) |
"Nemaline myopathies are a heterogenous group of congenital myopathies caused by de novo, dominantly or recessively inherited mutations in at least twelve genes." | ( Laitila, JM; Sewry, CA; Wallgren-Pettersson, C, 2019) |
"Nemaline myopathies are a clinically and genetically heterogeneous group of congenital myopathies, mainly characterized by muscle weakness, hypotonia and respiratory insufficiency." | ( Chaoui, R; Dittmayer, C; Englert, B; Goebel, HH; Korinth, D; Pelin, K; Rocha, ML; Rossi, R; Schlembach, D; Schmid, S; Schuelke, M; Stenzel, W; Suk, EK; Uruha, A, 2021) |