ライフサイエンスコーパス: limb-girdle muscular dystrophy

1 ystrophy, facioscapulohumeral dystrophy, and limb-girdle muscular dystrophy).

2 mains in dysferlin, whose gene is mutated in limb girdle muscular dystrophy.

3 lar dystrophy resembling what is observed in limb girdle muscular dystrophy.

4 protease calpain-3 cause autosomal recessive limb girdle muscular dystrophy.

5 -sarcoglycan-null (scgd(-/-)) mouse model of limb-girdle muscular dystrophy.

6 for delta-sarcoglycan (scgd-/-), a model of limb-girdle muscular dystrophy.

7 nale for the development of gene therapy for limb-girdle muscular dystrophy.

8 sarcolemma and produce one of four types of limb-girdle muscular dystrophy.

9 coglycan have been identified in humans with limb-girdle muscular dystrophy.

10 a, and delta) have been found in humans with limb-girdle muscular dystrophy.

11 ns lead to four forms of autosomal recessive limb-girdle muscular dystrophy.

12 mplex may be involved in the pathogenesis of limb-girdle muscular dystrophy.

13 rburg syndrome, to mild forms of adult-onset limb-girdle muscular dystrophy.

14 d its absence is common to both Duchenne and limb girdle muscular dystrophies.

15 stitute promising therapeutic strategies for limb-girdle muscular dystrophies.

16 l emphasis on animal models for Duchenne and limb-girdle muscular dystrophies.

17 tions in the encoding genes cause congenital/limb-girdle muscular dystrophies.

18 Limb-girdle muscular dystrophy 1A (LGMD1A [MIM 159000])

19 exia-1 (DYX1) and TMOD4 a candidate gene for limb girdle muscular dystrophy 1B (LGMD1B).

20 Of these, Emery-Dreifuss and Limb-Girdle muscular dystrophy 1B mainly affect striated

21 nsistent with the mild phenotype observed in Limb-girdle muscular dystrophy-1C (LGMD-1C) in humans, c

22 is of Cav-3-related muscle diseases, such as limb-girdle muscular dystrophy-1C, distal myopathy, and

23 in-3 expression in skeletal muscle resembles limb-girdle muscular dystrophy-1C.

24 Limb girdle muscular dystrophy 1D/1E (OMIM nomenclature

25 Limb girdle muscular dystrophy 2A is due to loss-of-func

26 fic family member calpain 3 (CAPN3) underlie limb-girdle muscular dystrophy 2A.

27 Mutations in the dysferlin gene cause limb girdle muscular dystrophy 2B (LGMD2B) and Miyoshi m

28 tivity in a mouse model of the human disease limb girdle muscular dystrophy 2B (LGMD2B), caused by a

29 +) signaling offers a therapeutic avenue for limb girdle muscular dystrophy 2B and Miyoshi myopathy p

30 Limb girdle muscular dystrophy 2B and Miyoshi myopathy w

31 We have developed a new diagnostic assay for limb girdle muscular dystrophy 2B and Miyoshi myopathy,

32 EY POINTS: Dysferlin, the protein missing in limb girdle muscular dystrophy 2B and Miyoshi myopathy,

33 Dysferlinopathies, most commonly limb girdle muscular dystrophy 2B and Miyoshi myopathy,

34 t mutations in dysferlin are responsible for limb girdle muscular dystrophy 2B and Miyoshi myopathy.

35 In our analysis of 12 patients with limb girdle muscular dystrophy 2B or Miyoshi myopathy, t

36 ssive muscular dystrophies Miyoshi myopathy, limb girdle muscular dystrophy 2B, and distal anterior c

37 HDAC6 and dysferlin, the protein mutated in limb girdle muscular dystrophy 2B.

38 Deficiency of dysferlin leads to limb-girdle muscular dystrophy 2B (LGMD2B) and Miyoshi m

39 ne resulting in dysferlin-deficiency lead to limb-girdle muscular dystrophy 2B and Myoshi myopathy in

40 ein dysferlin, underlie Miyoshi myopathy and limb-girdle muscular dystrophy 2B in humans and produce

41 Limb-girdle muscular dystrophy 2B, Miyoshi myopathy, and

42 arries mutations in patients presenting with limb-girdle muscular dystrophy 2B.

43 Autosomal recessive limb girdle muscular dystrophies 2C-2F represent a famil

44 Limb girdle muscular dystrophy 2C is caused by mutations

45 Limb-girdle muscular dystrophies 2C-F represent a family

46 rophy, congenital muscular dystrophy 1A, and limb girdle muscular dystrophy 2D.

47 alpha sarcoglycan (Sgca), a mouse model for limb girdle muscular dystrophy 2D.

48 emains unclear why mutations in Tcap lead to limb-girdle muscular dystrophy 2G (LGMD2G) in human pati

49 Limb girdle muscular dystrophy 2H is caused by mutations

50 32 (TRIM32) are responsible for the disease limb-girdle muscular dystrophy 2H (LGMD2H).

51 ngenital muscular dystrophy type 1C (MDC1C), limb girdle muscular dystrophy 2I (LGMD2I) and congenita

52 nerate a wide range of pathologies from mild limb girdle muscular dystrophy 2I (LGMD2I), severe conge

53 hology in FKRP P448Lneo(-) mice, a model for limb girdle muscular dystrophy 2I.

54 Limb-girdle muscular dystrophy 2I (LGMD2I) is caused by

55 FKRPP448L-mutant mouse representing moderate limb-girdle muscular dystrophy 2I.

56 riable clinical phenotypes, most commonly as limb-girdle muscular dystrophy 2I.

57 Human tibial muscular dystrophy and limb-girdle muscular dystrophy 2J are caused by mutation

58 one of two previously identified disorders, limb-girdle muscular dystrophy 2L and non-dysferlin Miyo

59 various proteins known to be involved in the limb-girdle muscular dystrophies (alpha, beta, gamma, de

60 lly, we have identified an important case of limb girdle muscular dystrophy and cardiomyopathy with n

61 ng the pathogenesis of sarcoglycan deficient limb-girdle muscular dystrophies and for the development

62 t on wild type (WT) Cav3 and associates with limb-girdle muscular dystrophy and cardiomyopathy.

63 ense mutation (Thr192-->Met) in a woman with limb-girdle muscular dystrophy and cognitive impairment.

64 emonstrate that FLN2 protein localization in limb-girdle muscular dystrophy and Duchenne muscular dys

65 anging from congenital muscular dystrophy to limb-girdle muscular dystrophy and identified allelic IS

66 tinct diseases, including three new forms of limb-girdle muscular dystrophy and one form of congenita

67 viral vectors have recently started, one in limb-girdle muscular dystrophy and one in Duchenne muscu

68 trophy (EDMD), dilated cardiomyopathy (DCM), limb-girdle muscular dystrophy, and Hutchison-Gilford pr

69 ma-sarcoglycan result in autosomal recessive limb girdle muscular dystrophy (AR-LGMD).

70 Limb-girdle muscular dystrophies are a genetically diver

71 The limb-girdle muscular dystrophies are a group of disorder

72 mma is dramatically reduced in patients with limb-girdle muscular dystrophy arising from the loss of

73 al Specialist Commissioning Team service for limb-girdle muscular dystrophies at Newcastle (UK).

74 c hamster is a naturally occurring model for limb-girdle muscular dystrophy caused by a primary defic

75 models of muscular dystrophy, including DM1, limb-girdle muscular dystrophy, congenital merosin-defic

76 c conduction-system disease, and adult-onset limb-girdle muscular dystrophy (FDC, conduction disease,

77 uscular dystrophy type 2A is the most common limb girdle muscular dystrophy form worldwide.

78 abnormalities were not found, we identified limb-girdle muscular dystrophy gene mutations affecting

79 ent a genetically distinct subset within the limb-girdle muscular dystrophy group.

80 understanding the molecular pathogenesis of limb-girdle muscular dystrophy has been gained.

81 Some patients with autosomal recessive limb-girdle muscular dystrophy have mutations in the gen

82 o sib pairs) with a predominantly late onset limb-girdle muscular dystrophy in whom an absence of mer

83 Limb-girdle muscular dystrophy is a class of disorders e

84 stroglycan causes an array of congenital and limb girdle muscular dystrophies known as dystroglycanop

85 Dysferlin, the gene product of the limb girdle muscular dystrophy (LGMD) 2B locus, encodes

86 Duchenne muscular dystrophy (DMD) and limb girdle muscular dystrophy (LGMD) 2C-F result from t

87 Limb girdle muscular dystrophy (LGMD) 2F is caused by mu

88 pes including Walker-Warburg syndrome (WWS), limb girdle muscular dystrophy (LGMD) 2I and congenital

89 feature of four types of autosomal recessive limb girdle muscular dystrophy (LGMD) is that mutations

90 PTP dysregulation is found in limb girdle muscular dystrophy (LGMD) type 2B myoblasts

91 involvement, to relatively mild adult onset limb girdle muscular dystrophy (LGMD).

92 Autosomal dominant limb girdle muscular dystrophy (LGMD-1C) in humans is du

93 down-regulated in patients with this form of limb girdle muscular dystrophy (LGMD-1C).

94 Limb-girdle muscular dystrophies (LGMD) are a heterogene

95 eneity which has long been recognized in the limb-girdle muscular dystrophies (LGMD) has been shown t

96 The limb-girdle muscular dystrophies (LGMD) have recently un

97 rcoglycan complex is known to be involved in limb-girdle muscular dystrophy (LGMD) and is composed of

98 Four types of limb-girdle muscular dystrophy (LGMD) are known to be ca

99 s in POMT2 have also been linked to a milder limb-girdle muscular dystrophy (LGMD) phenotype, named L

100 ereditary inclusion body myopathy (hIBM) and limb-girdle muscular dystrophy (LGMD), are a genetically

101 in a family of 4 with cardiac arrhythmia and limb-girdle muscular dystrophy (LGMD).

102 Autosomal dominant limb-girdle muscular dystrophy (LGMD-1C) in humans is du

103 dentified a novel autosomal dominant form of limb-girdle muscular dystrophy (LGMD-1C) in humans that

104 cation of a new locus for autosomal dominant limb-girdle muscular dystrophy (LGMD1) on 7q.

105 ent expressing an autosomal dominant form of limb girdle muscular dystrophy (LGMD1A).

106 mple, in the diagnosis of autosomal dominant limb-girdle muscular dystrophy (LGMD1A), it is not alway

107 ases, including Emery-Dreifuss (EDMD2/3) and Limb-Girdle muscular dystrophy (LGMD1B).

108 patients with sarcoglycanopathies, which are limb-girdle muscular dystrophies (LGMD2C-2F) caused by m

109 The other 18 had limb girdle muscular dystrophy (LGMD2I).

110 Autosomal recessive limb-girdle muscular dystrophies (LGMDs) are genetically

111 Another group of MD's referred to as the limb-girdle muscular dystrophies (LGMDs) can affect boys

112 l recessive muscular dystrophy to the milder limb-girdle muscular dystrophies (LGMDs).

113 her types of muscular dystrophies, including limb-girdle muscular dystrophies (LGMDs).

114 -to-date analysis of current knowledge about limb-girdle muscular dystrophies (LGMDs).

115 ts presented as an adult or adolescent-onset limb-girdle muscular dystrophy, one presented with isola

116 rotein that may be a good candidate gene for limb-girdle muscular dystrophy or other neuromuscular di

117 nderlying the molecular mechanism of several limb-girdle muscular dystrophies, particularly those whe

118 ly step in the diagnostic algorithm of adult limb-girdle muscular dystrophy patients.

119 e dystrophin-glycoprotein complex, produce a limb-girdle muscular dystrophy phenotype; however, the p

120 tions in these genes might also cause milder limb-girdle muscular dystrophy phenotypes.

121 henne muscular dystrophy or various forms of limb-girdle muscular dystrophies respectively.

122 ption of the cardiac involvement in forms of limb girdle muscular dystrophies secondary to abnormal g

123 Miyoshi myopathy (MM) and limb-girdle muscular dystrophy subtype 2B (LGMD2B) map t

124 uscular dystrophies ranging from adult onset limb girdle muscular dystrophies to severe congenital fo

125 uscular dystrophies ranging from adult onset limb girdle muscular dystrophies to severe congenital fo

126 a broad spectrum of disorders, ranging from limb girdle muscular dystrophy to Walker-Warburg syndrom

127 Limb Girdle Muscular Dystrophies type 2I (LGMD2I), a rec

128 The protein dysferlin, the product of the Limb Girdle Muscular Dystrophy type 2 locus, has been sh

129 ease calpain 3 (CAPN3) result in the disease limb girdle muscular dystrophy type 2A (LGMD2A).

130 Diagnosis of limb girdle muscular dystrophy type 2A can be complex du

131 Limb girdle muscular dystrophy type 2A is the most commo

132 enders patients deficient in calpain 3 as in limb girdle muscular dystrophy type 2A, albeit in a mild

133 akness was generally milder than observed in limb girdle muscular dystrophy type 2A, but affected the

134 cle function, since mutations in CAPN3 cause limb girdle muscular dystrophy type 2A.

135 tease calpain 3 (C3), the protein mutated in limb girdle muscular dystrophy type 2A.

136 PN3 result in an autosomal recessive form of limb girdle muscular dystrophy type 2A.

137 Limb girdle muscular dystrophy type 2B and Miyoshi myopa

138 Mutations in the dysferlin gene cause limb girdle muscular dystrophy type 2B and Miyoshi myopa

139 ficiency of the dysferlin protein results in limb girdle muscular dystrophy type 2B and Miyoshi myopa

140 rlin, a member of the ferlin family, lead to limb girdle muscular dystrophy type 2B and Myoshi myopat

141 be therapeutically useful for patients with limb girdle muscular dystrophy type 2B.

142 oglycan (delta sgc), a mouse model for human limb girdle muscular dystrophy type 2F.

143 or several hereditary disorders that include limb girdle muscular dystrophy type 2H (LGMD2H), sarcotu

144 ed to two forms of muscular dystrophy called limb girdle muscular dystrophy type 2H and sarcotubular

145 nital muscular dystrophy type 1C (MDC1C) and limb girdle muscular dystrophy type 2I (LGMD2I).

146 Congenital muscular dystrophy type 1C and limb girdle muscular dystrophy type 2I are allelic, both

147 ad to both Walker-Warburg syndrome (WWS) and limb girdle muscular dystrophy type 2K (LGMD2K).

148 ions in any of the sarcoglycan genes lead to limb-girdle muscular dystrophies type 2C-2F.

149 Limb-girdle muscular dystrophy type 1A (LGMD1A) is an au

150 tations have been described in patients with limb-girdle muscular dystrophy type 1A (LGMD1A), myofibr

151 ery efforts for several disorders, including limb-girdle muscular dystrophy type 1A and the genes del

152 Limb-girdle muscular dystrophy type 1D (LGMD1D) is cause

153 One such example recently discovered is limb-girdle muscular dystrophy type 1D (LGMD1D), which i

154 d calpain-3 (CAPN3) the product of the human limb-girdle muscular dystrophy type 2A (LGMD2A) gene.

155 -lysosomal cysteine protease calpain 3 cause limb-girdle muscular dystrophy type 2A (LGMD2A).

156 the pathological signs in a murine model for limb-girdle muscular dystrophy type 2A after intramuscul

157 normal muscle physiology and in the study of limb-girdle muscular dystrophy type 2A in humans.

158 Blots of muscle from nine limb-girdle muscular dystrophy type 2A patients with def

159 Genetic defects in calpain3 (CAPN3) lead to limb-girdle muscular dystrophy type 2A, a disease of the

160 the product of the gene that is defective in limb-girdle muscular dystrophy type 2A.

161 form underlie the human hereditary condition limb-girdle muscular dystrophy type 2A.

162 been identified as a novel gene involved in limb-girdle muscular dystrophy type 2B (LGMD2B) and its

163 identified which is mutated in patients with limb-girdle muscular dystrophy type 2B (LGMD2B) and with

164 gene, a gene which is also mutated in human limb-girdle muscular dystrophy type 2B (LGMD2B).

165 Dysferlin deficiency causes limb-girdle muscular dystrophy type 2B (LGMD2B; proximal

166 to two clinically distinct muscle diseases, limb-girdle muscular dystrophy type 2B and Miyoshi myopa

167 Defects in dysferlin result in limb-girdle muscular dystrophy type 2B and Miyoshi myopa

168 The dysferlin gene is mutated in limb-girdle muscular dystrophy type 2B, Miyoshi myopathy

169 One form of this disorder, limb-girdle muscular dystrophy type 2C (LGMD 2C), is pre

170 ssed gamma-sarcoglycan-null mice, a model of limb-girdle muscular dystrophy type 2C, with a Col6a2-de

171 Limb-girdle muscular dystrophy type 2D (LGMD 2D) is an a

172 Duchenne muscular dystrophy (DMD) patients, limb-girdle muscular dystrophy type 2D (LGMD2D) and thei

173 Limb-girdle muscular dystrophy type 2D (LGMD2D) is cause

174 ults in a severe form of muscular dystrophy (limb-girdle muscular dystrophy type 2D [LGMD2D]) without

175 Limb-girdle muscular dystrophy type 2E (LGMD 2E) is caus

176 Autosomal recessive limb-girdle muscular dystrophy type 2G (LGMD2G) is an ad

177 ide ligase-ubiquitin ligase mutated in human limb-girdle muscular dystrophy type 2H (LGMD2H) and Bard

178 Limb-girdle muscular dystrophy type 2H (LGMD2H) and sarc

179 RIM32) cause two seemingly diverse diseases: limb-girdle muscular dystrophy type 2H (LGMD2H) or sarco

180 letal muscle and is orthologous to the human limb-girdle muscular dystrophy type 2H disease gene Trim

181 nally, mutations in the FKRP gene also cause limb-girdle muscular dystrophy type 2I (LGMD2I), a consi

182 sociated with FKRP mutations range from mild limb-girdle muscular dystrophy type 2I with predominantl

183 alleles in biopsies of 6 patients, 3 with an limb-girdle muscular dystrophy type 2J (LGMD2J) phenotyp

184 ked to several clinical phenotypes including limb-girdle muscular dystrophy type 2L and Miyoshi myopa

185 Limb-girdle muscular dystrophy, type 2A (LGMD 2A), is an

186 lasting alpha-sarcoglycan gene expression in limb-girdle muscular dystrophy, type 2D (LGMD2D) subject

187 phy, facioscapulohumeral muscular dystrophy, limb-girdle muscular dystrophies types 2A and 2B, Miyosh

188 Limb-girdle muscular dystrophy types 2E and F are charac

189 is observed in patients with other forms of limb-girdle muscular dystrophy where dystrophin and the

190 Limb girdle muscular dystrophy, which was described for

191 typic spectrum of GMPPB mutations to include limb-girdle muscular dystrophies with adult onset with o

192 mutations are responsible for congenital and limb-girdle muscular dystrophies with hypoglycosylation

193 Here we review each form of limb-girdle muscular dystrophy with attention to molecul

194 e most severe form of dystroglycanopathy, to limb-girdle muscular dystrophy with cognitive defects.

195 e limited to patients with Duchenne-like and limb-girdle muscular dystrophy with normal dystrophin an

196 and structural eye defects to a mild form of limb-girdle muscular dystrophy with onset in adult life

197 the prevalence among patients with proximal (limb-girdle) muscular dystrophy with a later onset was 6

198 lities and intellectual delay to adult-onset limb-girdle muscular dystrophies without mental retardat