ライフサイエンスコーパス: limb-girdle

1 ing, elongate dorsal vertebrae, and modified limb girdles.

2 bles Odontochelys in various features of the limb girdles.

3 The limb girdle and congenital muscular dystrophies (LGMD an

4 uding Becker muscular dystrophy and forms of limb-girdle and congenital muscular dystrophies, and 21

5 Patient 1 had cervical, limb girdle, and respiratory muscle weakness and died of

6 e 1 (GFPT1) cause the neuromuscular disorder limb-girdle congenital myasthenic syndrome (LG-CMS).

7 ncluding congenital muscular dystrophies and limb-girdle dystrophies), strokes and stroke-like episod

8 roduce more than one myopathy phenotype (MM, limb girdle dystrophy, distal myopathy with anterior tib

9 milder proximal myopathies characteristic of limb-girdle dystrophy and more severe disorders reminisc

10 ved in one patient with an undefined form of limb-girdle dystrophy.

11 advances in the genetic understanding of the limb-girdle (LGMD) and congenital (CMD) muscular dystrop

12 cium-dependent proteinase that is mutated in Limb Girdle Muscle Dystrophy type 2A.

13 chial plexus MR imaging, brachial plexus and limb-girdle muscle abnormalities were evaluated in 23 pa

14 Nerve root and limb-girdle muscle abnormalities were visually evaluated

15 Limb-girdle muscle alterations (ie, T2 signal intensity

16 various diseases including Alstrom syndrome, limb-girdle muscle dystrophy, and Miyoshi myopathy.

17 ing of the peripheral nervous system and the limb-girdle muscle may be useful for monitoring the evol

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

43 Limb girdle muscular dystrophy 2B and Miyoshi myopathy w

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

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

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

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

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

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

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

51 Limb girdle muscular dystrophy 2C is caused by mutations

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

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

54 Limb girdle muscular dystrophy 2H is caused by mutations

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

70 Limb girdle muscular dystrophy type 2B and Miyoshi myopa

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

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

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

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

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

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

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

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

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

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

81 Limb girdle muscular dystrophy, which was described for

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

97 Limb-girdle muscular dystrophies are a genetically diver

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

130 32 (TRIM32) are responsible for the disease limb-girdle muscular dystrophy 2H (LGMD2H).

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

216 mation, and DOK7 mutations underlie familial limb-girdle myasthenia (DOK7 myasthenia), a neuromuscula

217 affecting primarily proximal limb muscles ['limb-girdle myasthenia' (LGM)].

218 The phenotype can be distinguished from 'limb-girdle' myasthenia associated with tubular aggregat

219 guishing features of the disorder from other limb girdle myopathies include elderly age of onset, eth

220 myasthenic syndrome (CMS) characterized by a limb-girdle pattern of muscle weakness.

221 erlying defect in patients with an inherited limb-girdle pattern of myasthenic weakness.

222 in a group of individuals with an inherited limb-girdle pattern of myasthenic weakness.

223 of CMS patients have a recessively inherited limb-girdle pattern of weakness caused by mutations in D

224 subgroup of patients shows a characteristic "limb girdle" pattern of muscle weakness, in which the mu

225 lly more affected than distal, leading to a 'limb-girdle' pattern of weakness; although ptosis was of

226 tial loss of Dok-7 activity cause a distinct limb-girdle subtype of the inherited NMJ disorder congen

227 , and sudden death are more commonly seen in limb-girdle type 1B, myotonic, and Emery-Dreifuss muscul

228 Becker muscular dystrophy (BMD, n = 14) and limb-girdle type 2I muscular dystrophy (LGMD2I, n = 11),

229 Patients have prominent limb girdle weakness and minimal craniobulbar symptoms.

230 he clinical spectrum varied from mild static limb-girdle weakness to severe generalized progressive d

231 All patients had prominent limb-girdle weakness with minimal or absent craniobulbar

232 l; facioscapulohumeral; oculopharyngeal; and limb-girdle which is the most heterogeneous group.