ライフサイエンスコーパス: congenital muscular dystrophy

1 dividuals with genetically distinct types of congenital muscular dystrophy.

2 type II cobblestone lissencephaly as seen in congenital muscular dystrophy.

3 utant could be a novel mechanism that causes congenital muscular dystrophy.

4 of the COL6A2 gene, in patients with Ullrich congenital muscular dystrophy.

5 ues, and mutations in its gene are causes of congenital muscular dystrophy.

6 ted muscular dystrophy, and alpha 7 integrin congenital muscular dystrophy.

7 ess very low levels of LM alpha2 and exhibit congenital muscular dystrophy.

8 iant, the dy2J/dy2J mouse, animal models for congenital muscular dystrophy.

9 mb-girdle muscular dystrophy and one form of congenital muscular dystrophy.

10 process should be considered consistent with congenital muscular dystrophy.

11 q22, is deficient in about half the cases of congenital muscular dystrophy.

12 r expression are the causes of some types of congenital muscular dystrophy.

13 assessment of laminin-2 (merosin) status in congenital muscular dystrophy.

14 skin biopsy specimens from two patients with congenital muscular dystrophy.

15 variants in human CHKB are associated with a congenital muscular dystrophy.

16 ker-Warburg syndrome (WWS), a severe form of congenital muscular dystrophy.

17 severity ranging from mild LGMD2I to severe congenital muscular dystrophy.

18 nge from Walker-Warburg syndrome to Fukuyama congenital muscular dystrophy.

19 yelination and is disrupted in some types of congenital muscular dystrophy.

20 ted episodes of rhabdomyolysis, and one as a congenital muscular dystrophy.

21 th broad severity, including limb-girdle and congenital muscular dystrophy.

22 mild Bethlem myopathy to the severe Ullrich congenital muscular dystrophy.

23 t dystroglycan receptor function and lead to congenital muscular dystrophy.

24 ies associated with laminin-alpha2-deficient congenital muscular dystrophy.

25 ion is associated with various phenotypes of congenital muscular dystrophy.

26 alpha-DG and are causal for various forms of congenital muscular dystrophy.

27 annosylation are causal for various forms of congenital muscular dystrophy.

28 muscle-eye-brain disease, and Fukuyama-type congenital muscular dystrophy.

29 nderstanding of the mechanisms that underlie congenital muscular dystrophy.

30 binding with laminin underlies a subclass of congenital muscular dystrophy.

31 y that similar synaptic defects occur in the congenital muscular dystrophies.

32 c strategy for glycosyltransferase-deficient congenital muscular dystrophies.

33 sylation of alpha-dystroglycan gives rise to congenital muscular dystrophies.

34 arating the TMTC3 COB phenotype from typical congenital muscular dystrophies.

35 congenital disorders of glycosylation to the congenital muscular dystrophies.

36 inhibit muscle pathology in mouse models of congenital muscular dystrophy 1A and Duchenne muscular d

37 mouse models of Duchenne muscular dystrophy, congenital muscular dystrophy 1A, and limb girdle muscul

38 irdle muscular dystrophy 2I (LGMD2I), severe congenital muscular dystrophy 1C (MDC1C), to Walker-Warb

39 limb girdle muscular dystrophy (LGMD) 2I and congenital muscular dystrophy 1C (MDC1C).

40 he fukutin-related protein (FKRP) gene cause congenital muscular dystrophy 1C, typically lacking brai

41 d both in Large(myd) mice and in humans with congenital muscular dystrophy 1D (MDC1D).

42 Fukuyama congenital muscular dystrophy, and congenital muscular dystrophy 1D, are caused by mutation

43 al model for study of the molecular basis of congenital muscular dystrophy [2] [3].

44 he mutated gene product that causes Fukuyama congenital muscular dystrophy), a group of enzymes with

45 the dyW/dyW mouse model of laminin-deficient congenital muscular dystrophy, a much more severe and le

46 Mutations in LAMA2 cause severe congenital muscular dystrophy accompanied by nervous sys

47 ent underlies cortical lamination defects in congenital muscular dystrophies and a cellular mechanism

48 Defects in O-Man glycosylation underlie congenital muscular dystrophies and considerable efforts

49 e cerebellar atrophy), myopathies (including congenital muscular dystrophies and limb-girdle dystroph

50 cular dystrophy and forms of limb-girdle and congenital muscular dystrophies, and 21 patients had fal

51 onial congenital muscular dystrophy, Ullrich congenital muscular dystrophy, and alpha-dystroglycanopa

52 syndrome, muscle-eye-brain disease, Fukuyama congenital muscular dystrophy, and congenital muscular d

53 nsferase 2 (POMT2) are known to cause severe congenital muscular dystrophy, and recently, mutations i

54 Congenital muscular dystrophies are a highly heterogeneo

55 Congenital muscular dystrophies are hereditary disorders

56 ts suggest that the pathogenic mechanisms in congenital muscular dystrophy are different from those i

57 s with muscle-eye-brain disease and Fukuyama congenital muscular dystrophy, as well as mice with myod

58 ers known as dystroglycanopathies, which are congenital muscular dystrophies associated with brain an

59 ention as a pathomechanism underlying severe congenital muscular dystrophies associated with neuronal

60 n VI-related myopathies' and include Ullrich congenital muscular dystrophy, Bethlem myopathy and inte

61 rein the affected individuals presented with congenital muscular dystrophy, brain abnormalities and g

62 cts in type 2 (cobblestone) lissencephaly or congenital muscular dystrophies but appear later in cort

63 ation was initiated in patients with Ullrich congenital muscular dystrophy by 11.3 years (+/-4.0) and

64 by LAMA2) are linked to approximately 30% of congenital muscular dystrophy cases.

65 Several congenital muscular dystrophies caused by defects in kno

66 ebral cortical malformations in syndromes of congenital muscular dystrophies caused by defects in O-m

67 the cell and molecular changes that occur in congenital muscular dystrophies caused by Lama2 mutation

68 in some of the pathogenic events observed in congenital muscular dystrophy caused by merosin deficien

69 muscular dystrophy (MDC1A) is a devastating congenital muscular dystrophy caused by mutations in the

70 Congenital muscular dystrophy, caused by mutations in LA

71 The P448L mutation in FKRP that causes congenital muscular dystrophy changes a conserved amino

72 s (POMTs) result in severe brain defects and congenital muscular dystrophies characterized by abnorma

73 tion result in dystroglycanopathy, a type of congenital muscular dystrophy characterized by a wide ra

74 The congenital muscular dystrophies (CMD) are a heterogeneou

75 NA gene variants L35P and R249Q, which cause congenital muscular dystrophy (CMD) and dilated cardiomy

76 Congenital muscular dystrophy (CMD) is a group of clinic

77 The most common form of human congenital muscular dystrophy (CMD) is caused by mutatio

78 Congenital muscular dystrophy (CMD) is characterized by

79 These diseases include severe forms of congenital muscular dystrophy (CMD) such as Fukuyama typ

80 Two forms of congenital muscular dystrophy (CMD), Fukuyama CMD and CM

81 association with dystroglycanopathy types of congenital muscular dystrophies (CMDs) and ocular abnorm

82 mbrane underlie neural ectopia seen in those congenital muscular dystrophies (CMDs) caused by mutatio

83 The congenital muscular dystrophies (CMDs) comprise a hetero

84 the most common causes of a severe group of congenital muscular dystrophies (CMDs) known as dystrogl

85 oup of neurodevelopmental disorders known as congenital muscular dystrophies (CMDs) with associated C

86 sease (MEB), and Walker-Warburg syndrome are congenital muscular dystrophies (CMDs) with associated d

87 mb girdle muscular dystrophy 2I (LGMD2I) and congenital muscular dystrophies (CMDs) with brain malfor

88 ts in protein O-mannosylation lead to severe congenital muscular dystrophies collectively known as a-

89 ses, POMT1 and POMT2, underlie a subgroup of congenital muscular dystrophies designated alpha-dystrog

90 Congenital muscular dystrophies display a wide phenotypi

91 ic muscles of mice representing Duchenne and congenital muscular dystrophies (DMD and CMD, respective

92 In individuals exhibiting congenital muscular dystrophy, early-onset cataracts, an

93 Muscle eye brain disease (MEB) and Fukuyama congenital muscular dystrophy (FCMD) are congenital musc

94 muscle-eye-brain disease (MEB) and Fukuyama congenital muscular dystrophy (FCMD), as well as the myo

95 scular dystrophy (CMD) such as Fukuyama type congenital muscular dystrophy (FCMD), Muscle-Eye-Brain d

96 Fukuyama congenital muscular dystrophy (FCMD), muscle-eye-brain d

97 utin, the defective protein in Fukuyama-type congenital muscular dystrophy (FCMD), that is thought to

98 Fukuyama-type congenital muscular dystrophy (FCMD, MIM#253800) is an a

99 anges (G76R and V428D) that result in severe congenital muscular dystrophies in humans, in yeast Pmt4

100 t are comparable to the clinical features of congenital muscular dystrophies in humans.

101 Recently, the first locus for congenital muscular dystrophy in association with rigid

102 n in combination with cobblestone cortex and congenital muscular dystrophy in individuals with dystro

103 r dystrophy type 1A (MDC1A), the most common congenital muscular dystrophy in Western countries, is c

104 ypic effects of altered glycosylation in the congenital muscular dystrophies, including Walker-Warbur

105 Laminin-deficient congenital muscular dystrophy is one of the most severe

106 pathogenesis model for this major subset of congenital muscular dystrophy is proposed.

107 Laminin-alpha2 related congenital muscular dystrophy (LAMA2-CMD) is a fatal mus

108 The limb girdle and congenital muscular dystrophies (LGMD and CMD) are chara

109 nts with Bethlem myopathy, merosin-deficient congenital muscular dystrophy, LGMD2A, Duchenne muscular

110 inin-2/merosin suffer from merosin-deficient congenital muscular dystrophy (MCMD).

111 in mouse models for laminin alpha2-deficient congenital muscular dystrophy (MDC1A).

112 Four patients had congenital muscular dystrophy (MDC1C), with presentation

113 n is altered in skeletal muscle of classical congenital muscular dystrophy mouse models.

114 the functions of Tmem2 and the etiologies of congenital muscular dystrophies, particularly dystroglyc

115 onstrate that this mechanism is disrupted in congenital muscular dystrophy patient myotubes carrying

116 mmunofluorescence and immunoblotting (30% of congenital muscular dystrophy patients tested).

117 ns in the LARGE gene have been identified in congenital muscular dystrophy patients with brain abnorm

118 adult onset myotonic dystrophy patients, two congenital muscular dystrophy patients, four normal cont

119 n molecular defect found in dominant Ullrich congenital muscular dystrophy patients.

120 3galnt2 in zebrafish recapitulated the human congenital muscular dystrophy phenotype with reduced mot

121 ation result in dystroglycanopathies: severe congenital muscular dystrophy phenotypes often accompani

122 The congenital muscular dystrophies present in infancy with

123 This 17-year-old girl presented with congenital muscular dystrophy, profound mental retardati

124 ant overlap in pathogenesis between LGMD and congenital muscular dystrophies, prompting further resea

125 Several forms of congenital muscular dystrophy, referred to as dystroglyc

126 phenotypic overlap were due to mutations in congenital muscular dystrophy-related genes (4 families)

127 of LARGE into the cells of individuals with congenital muscular dystrophies restores alpha-DG recept

128 Several forms of congenital muscular dystrophy result from mutations in g

129 MDC1A, the second most prevalent form of congenital muscular dystrophy, results from laminin-alph

130 ne muscular dystrophy (DMD), alpha 2 laminin congenital muscular dystrophy, sarcoglycan-related muscu

131 lso, approximately half of the patients with congenital muscular dystrophy show deficiency of a compo

132 ion lead to dystroglycanopathies, a group of congenital muscular dystrophies showing extreme genetic

133 demonstrate that mutations in INPP5K cause a congenital muscular dystrophy syndrome with short statur

134 n are characteristic features of a subset of congenital muscular dystrophies that include Walker-Warb

135 burg syndrome (WWS) is clinically defined as congenital muscular dystrophy that is accompanied by a v

136 ne glycoprotein dystroglycan cause a form of congenital muscular dystrophy that is frequently associa

137 5 subunits are expressed in alpha2-deficient congenital muscular dystrophy, they may be ineffective s

138 prevalence of 0.89/100 000 for the group of congenital muscular dystrophies to conditions with only

139 These data link congenital muscular dystrophies to defective phosphoinos

140 r dystroglycanopathy phenotypes ranging from congenital muscular dystrophy to limb-girdle muscular dy

141 bnormalities ranging from the severe Ullrich congenital muscular dystrophy to the mild Bethlem myopat

142 g of Fktn, the gene responsible for Fukuyama congenital muscular dystrophy, to investigate a developm

143 Lamininalpha2-deficient congenital muscular dystrophy type 1A (MDC1A) is a curel

144 Merosin-deficient congenital muscular dystrophy type 1A (MDC1A) is a drama

145 Merosin-deficient congenital muscular dystrophy type 1A (MDC1A) is a letha

146 Merosin-deficient congenital muscular dystrophy type 1A (MDC1A) is a sever

147 Merosin-deficient congenital muscular dystrophy type 1A (MDC1A) is an auto

148 The severely debilitating disease Congenital Muscular Dystrophy Type 1A (MDC1A) is caused

149 of a disease-modifying gene associated with congenital muscular dystrophy type 1A (MDC1A) using the

150 Congenital muscular dystrophy type 1A (MDC1A), the most

151 nd the Lama2-null mice are a model for human congenital muscular dystrophy type 1A (MDC1A).

152 cal efficacy of bortezomib administration in congenital muscular dystrophy type 1A clinical trials ma

153 Congenital muscular dystrophy type 1A is an autosomal re

154 cell lymphoma) in dy(3K)/dy(3K) mice and in congenital muscular dystrophy type 1A muscle cells.

155 n, bortezomib reduced proteasome activity in congenital muscular dystrophy type 1A myoblasts and myot

156 in a laminin-alpha2-deficient mouse model of congenital muscular dystrophy type 1A.

157 related protein (FKRP) gene in patients with congenital muscular dystrophy type 1C (MDC1C) and limb g

158 FKRP) cause a spectrum of diseases including congenital muscular dystrophy type 1C (MDC1C), limb gird

159 Congenital muscular dystrophy type 1C and limb girdle mu

160 s mutated in both the myodystrophy mouse and congenital muscular dystrophy type 1D (MDC1D).

161 Congenital muscular dystrophy type MDC1A is caused by mu

162 a2, cause a severe muscular dystrophy termed congenital muscular dystrophy type-1A (MDC1A).

163 The most common form of childhood congenital muscular dystrophy, Type 1A (MDC1A), is cause

164 in any of the three collagen VI genes cause congenital muscular dystrophy types Bethlem and Ullrich

165 Ullrich congenital muscular dystrophy (UCMD) is a disabling and

166 ions in collagen VI result in either Ullrich congenital muscular dystrophy (UCMD) or Bethlem myopathy

167 Bethlem myopathy and Ullrich congenital muscular dystrophy (UCMD) sit at opposite end

168 3, have recently been shown to cause Ullrich congenital muscular dystrophy (UCMD), a frequently sever

169 of clinical phenotypes, ranging from Ullrich congenital muscular dystrophy (UCMD), presenting with pr

170 gen VI, lead to Bethlem myopathy and Ullrich congenital muscular dystrophy (UCMD).

171 llow-up of a heart from a donor with Ullrich congenital muscular dystrophy (UCMD).

172 nal mechanisms are known to underlie Ullrich congenital muscular dystrophy (UCMD): heterozygous domin

173 MDs; Duchenne muscular dystrophy, megaconial congenital muscular dystrophy, Ullrich congenital muscul

174 nditions ranging from the most severe of the congenital muscular dystrophies, Walker-Warburg syndrome

175 has been reported in some clinical cases of congenital muscular dystrophy, we have begun to examine

176 rming to the original description of Ullrich congenital muscular dystrophy were easily identified by

177 n, a protein responsible for the majority of congenital muscular dystrophies when dysfunctional, has

178 in a group of patients with merosin-positive congenital muscular dystrophy, where it is generally ass

179 Dystroglycanopathies are a subset of congenital muscular dystrophies wherein alpha-dystroglyc

180 COL6) is known for its role in a spectrum of congenital muscular dystrophies, which are often accompa

181 ama congenital muscular dystrophy (FCMD) are congenital muscular dystrophies with associated, similar

182 Congenital muscular dystrophies with brain malformations

183 Congenital muscular dystrophies with hypoglycosylation o

184 rders such as Lowe and Joubert syndromes and congenital muscular dystrophy with cataracts and intelle

185 rotein varies from a severe prenatal form of congenital muscular dystrophy with cobblestone lissencep

186 acetyllactosamine synthesis, were causal for congenital muscular dystrophy with hypoglycosylation of

187 Congenital muscular dystrophy with megaconial myopathy (