ライフサイエンスコーパス: limb-girdle

1 pleomorphic liposarcoma of the extremity and limb girdle.

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

3 bles Odontochelys in various features of the limb girdles.

4 uate once weekly prednisone in patients with Limb Girdle and Becker muscular dystrophy (LGMD and BMD,

5 The limb girdle and congenital muscular dystrophies (LGMD an

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

7 lycanopathies with broad severity, including limb-girdle and congenital muscular dystrophy.

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

9 and DES, presenting as gradually progressive limb girdle CMS, expand the phenotypic spectrum.

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

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

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

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

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

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

16 rom five unrelated families with unexplained limb-girdle like muscular dystrophy and bi-allelic varia

17 s of AAV treatments for Duchenne MD, various limb girdle MDs, myotonic dystrophy 1, facioscapulohumer

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

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

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

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

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

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

24 relimb showed impaired bundle separation and limb girdle muscles distally dislocated from their inser

25 ts single-copy gene cause a dystrophy of the limb-girdle muscles.

26 we demonstrate that a distinct form of human limb girdle muscular disease is caused by a pathogenic h

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

49 Adipogenic muscle loss is a feature of limb girdle muscular dystrophy 2B (LGMD2B) - a disease c

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

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

52 zyme acid sphingomyelinase (ASM), and causes limb girdle muscular dystrophy 2B (LGMD2B).

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

54 Limb girdle muscular dystrophy 2B and Miyoshi myopathy w

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

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

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

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

59 skeletal muscle that is mutated or absent in limb girdle muscular dystrophy 2B and Miyoshi myopathy.

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

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

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

63 Limb girdle muscular dystrophy 2C is caused by mutations

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

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

66 Limb girdle muscular dystrophy 2H is caused by mutations

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

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

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

70 ANO5 deficit in limb girdle muscular dystrophy 2L (LGMD2L) patient cells

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

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

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

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

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

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

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

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

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

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

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

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

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

84 Limb girdle muscular dystrophy type 2B and Miyoshi myopa

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

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

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

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

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

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

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

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

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

94 eport that SNUPN variants are a new cause of limb girdle muscular dystrophy with specific clinical, h

95 y recognized later and at times resembling a limb girdle muscular dystrophy, and intermediate phenoty

96 w of the four commonest clinical categories (limb girdle muscular dystrophy, inherited peripheral neu

97 Limb girdle muscular dystrophy, which was described for

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

99 ible for a novel type of autosomal recessive limb girdle muscular dystrophy.

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

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

102 n in mice accelerates muscle loss and causes limb girdle muscular dystrophy.

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

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

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

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

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

108 omprise four subtypes of autosomal recessive limb-girdle muscular dystrophies (LGMDR3, LGMDR4, LGMDR5

109 include four subtypes of autosomal recessive limb-girdle muscular dystrophies (LGMDR3, LGMDR4, LGMDR5

110 arcoglycanopathies are recessively inherited limb-girdle muscular dystrophies (LGMDRs), in which the

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

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

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

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

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

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

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

118 Limb-girdle muscular dystrophies are a genetically diver

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

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

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

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

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

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

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

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

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

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

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

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

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

132 For adults with FSHD, Limb-girdle muscular dystrophy (LGMD) and Becker muscula

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

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

135 patients from two unrelated families with a limb-girdle muscular dystrophy (LGMD) phenotype carrying

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

137 Limb-girdle muscular dystrophy (LGMD) type R4/2E is caus

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

139 LGMD2L is a subtype of limb-girdle muscular dystrophy (LGMD), caused by recessi

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

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

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

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

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

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

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

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

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

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

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

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

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

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

154 Limb-girdle muscular dystrophy 2E/R4 is caused by mutati

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

156 32 (TRIM32) are responsible for the disease limb-girdle muscular dystrophy 2H (LGMD2H).

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

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

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

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

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

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

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

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

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

166 l intracellular Ca2+ and the muscle diseases limb-girdle muscular dystrophy and Miyoshi myopathy.

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

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

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

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

171 Limb-girdle muscular dystrophy D1 (LGMDD1) is a rare, do

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

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

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

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

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

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

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

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

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

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

182 Limb-girdle muscular dystrophy R1 (LGMD R1) is caused by

183 Limb-Girdle Muscular Dystrophy R1/2A (LGMD R1/2A) is cau

184 Mutations in ANO5 (TMEM16E) cause limb-girdle muscular dystrophy R12.

185 iMyoblasts from Limb-Girdle Muscular Dystrophy R7 and R9 and Walker Warb

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

187 NO5) and shows variable clinical phenotypes: limb-girdle muscular dystrophy type 12 (LGMD-R12), dista

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

208 tures of the Dysferlin-null mice, a model of limb-girdle muscular dystrophy type 2B, were reversed wh

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

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

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

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

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

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

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

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

217 patient-derived cell lines for two diseases: limb-girdle muscular dystrophy type 2G (LGMD2G)(1) and H

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

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

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

221 linically separate diseases, one of which is Limb-girdle muscular dystrophy type 2H (LGMD2H).

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

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

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

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

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

227 JB6 cause a late-onset muscle disease termed limb-girdle muscular dystrophy type D1 (LGMDD1), which i

228 a protein aggregation-linked myopathy termed Limb-Girdle Muscular Dystrophy Type D1 (LGMDD1).

229 Limb-girdle muscular dystrophy type R25 (LGMDR25) is cau

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

265 The NSAD is the first validated limb girdle specific scale of motor performance, suitabl

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

267 he validity of the North Star Assessment for Limb Girdle Type Muscular Dystrophies (NSAD) scale and i

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

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

270 ovements using the North Star Assessment for Limb-girdle Type Muscular Dystrophies maintained through

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

272 We screened 1,500 patients with unclassified limb girdle weakness or hyperCKemia for pathogenic POPDC

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

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

275 loped from childhood very slowly progressive limb-girdle weakness with rigid spine and disabling cont

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