ライフサイエンスコーパス: myopathy

1 eriodic paralysis, myasthenia, or congenital myopathy.

2 imb girdle muscular dystrophy 2B and Miyoshi myopathy.

3 erosis (fALS) and more rarely causing distal myopathy.

4 iate the pathology of ACTA1-related nemaline myopathy.

5 uction disease and signs of a primary atrial myopathy.

6 is of critical illness polyneuropathy and/or myopathy.

7 as observed in humans with hnRNPA2B1-related myopathy.

8 d to several diseases, such as mitochondrial myopathy.

9 motor phenotype and delayed the onset of the myopathy.

10 reportedly show cardiac defects and skeletal myopathy.

11 scle cell death, depletion of stem cells and myopathy.

12 be considered in patients with a congenital myopathy.

13 from six unrelated kindreds with congenital myopathy.

14 illness polyneuropathy, and critical illness myopathy.

15 ophthalmoplegia (adPEO), cardiomyopathy, and myopathy.

16 se stage may be effective at alleviating the myopathy.

17 e in neurodegenerative diseases and nemaline myopathy.

18 isease activity in patients with GNE-related myopathy.

19 vation is a major contributor to DOX-induced myopathy.

20 ecursor of sialic acid) in patients with GNE myopathy.

21 ars who had undergone analysis for suspected myopathy.

22 valuation to identify the preclinical atrial myopathy.

23 hed SWV and muscle anisotropy in GNE-related myopathy.

24 esult in dilated cardiomyopathy and skeletal myopathy.

25 urate diagnosis is made in patients with GNE myopathy.

26 deficiency of LMOD3 in mice causes nemaline myopathy.

27 re examined in the patients with GNE-related myopathy.

28 HL1 (c.365 G>C, p.W122S) in a family with SP myopathy.

29 or instability are linked to lethal nemaline myopathy.

30 athy, fiber-type disproportion, and rod-core myopathy.

31 muscle dysfunction associated with nemaline myopathy.

32 ies with a slowly progressive congenital cap myopathy.

33 trin-3 has also been implicated in inherited myopathy.

34 e muscular dystrophy 2B (LGMD2B) and Miyoshi myopathy.

35 ages as essential mediators of virus-induced myopathy.

36 We studied a patient with Bethlem myopathy.

37 ures that have been observed in human MEGF10 myopathy.

38 s and chronic alcohol consumption that cause myopathy.

39 weakness and atrophy reminiscent of a distal myopathy.

40 uclei, evoke a slow progressive degenerative myopathy.

41 a(2+) release is not the major driver of the myopathy.

42 ral patients exhibiting symptoms of nemaline myopathy.

43 ations to both GNE domains are linked to GNE myopathy.

44 Stat1, and Stat3, which may be facilitating myopathy.

45 dative stress as a therapeutic target in GNE myopathy.

46 ly ACTA1 is associated with intranuclear rod myopathy.

47 ubtype of CIPO characterized by degenerative myopathy.

48 se transcriptional co-activators in skeletal myopathies.

49 of muscle stress, particularly mitochondrial myopathies.

50 iological mechanism underlying this class of myopathies.

51 accurate diagnostic tool, but are scarce for myopathies.

52 and dissections, and multiple variations of myopathies.

53 es that are collectively termed FHL1-related myopathies.

54 f rod mutations causing cardiac and skeletal myopathies.

55 genesis; mutations in these proteins lead to myopathies.

56 the clinical overlap between LGMD and other myopathies.

57 erentiate inclusion body myositis from other myopathies.

58 on at pre-symptomatic stages of myofibrillar myopathies.

59 ht into the mechanisms underlying congenital myopathies.

60 Mutations in the RYR1 gene cause severe myopathies.

61 ed catalytic core subunit 2 (COX2) result in myopathies.

62 h as MAP1LC3 and SQSTM1 in sIBM and other RV myopathies.

63 ies a potential novel target to treat muscle myopathies.

64 o human vertebral segmentation disorders and myopathies.

65 ing as a novel pathway altered in these rare myopathies.

66 he main pathological symptom of myofibrillar myopathies.

67 cts in EC coupling are associated with human myopathies.

68 Less common myopathies included metabolic myopathy (2 families), congenital myasthenic syndrome (D

69 me for sialic acid biosynthesis, lead to GNE myopathy, a disease manifesting with progressive muscle

70 elch-like protein 41 (KLHL41) cause nemaline myopathy, a fatal muscle disorder associated with sarcom

71 he sarcomeric thin filaments causes nemaline myopathy, a lethal congenital muscle disorder associated

72 nital myasthenic syndrome (DOK7), congenital myopathy (ACTA1), tubular aggregate myopathy (STIM1), my

73 multiple muscle diseases, including nemaline myopathy, actin aggregate myopathy, fiber-type dispropor

74 d developed muscle pathology consistent with myopathy after 2 months; whereas mice expressing the sam

75 ysferlin-deficient A/J mouse develops a mild myopathy after 6 months of age, and when younger models

76 is of critical illness polyneuropathy and/or myopathy along with adult ICU propensity-matched control

77 ng and catabolic diseases and perhaps to the myopathies and cardiomyopathies seen with Trim32 and pla

78 considered for patients with uncharacterized myopathies and cardiomyopathies.

79 ations in the human desmin gene cause severe myopathies and cardiomyopathies.

80 mprove the molecular diagnosis of congenital myopathies and implicate the mitogen-activated protein k

81 and in humans, sHsp mutations are linked to myopathies and neuropathies.

82 nts with mitochondrial disease, inflammatory myopathies and sarcopenia.

83 he MATR3 gene is mutated in a form of distal myopathy and amyotrophic lateral sclerosis (ALS).

84 For, whereas the rare cases of myopathy and any muscle-related symptoms that are attrib

85 e of DM1 mouse model reduces skeletal muscle myopathy and atrophy.

86 utations cause childhood-onset mitochondrial myopathy and cardiomyopathy.

87 mber 40 (KLHL40) in mice results in nemaline myopathy and destabilization of leiomodin-3 (LMOD3).

88 drug reactions including simvastatin-induced myopathy and docetaxel-induced neutropenia.

89 nformational diseases," such as myofibrillar myopathy and familial amyotrophic lateral sclerosis.

90 th genetically and biopsy-proved GNE-related myopathy and five healthy volunteers (three women and tw

91 fantile lactic acidosis to childhood (cardio)myopathy and late-onset progressive external ophthalmopl

92 ut not BAG3(Met81), improved ischemic muscle myopathy and muscle precursor cell differentiation and i

93 ng a p97 mutation that causes inclusion body myopathy and neurodegeneration, and damaged lysosomes ac

94 ain), and children and adults presented with myopathy and progressive external ophthalmoplegia.

95 ghts into the molecular etiology of nemaline myopathy and reveal a mechanism whereby KLHL41 stabilize

96 ation known to cause defective nuclear wall, myopathy and severe cardiomyopathy.

97 ical illness polyneuropathy/critical illness myopathy and severe sepsis/septic shock studies.

98 of PtdIns 3-kinase inhibitors in myotubular myopathy and suggesting that unbalanced PtdIns 3-kinase

99 is of critical illness polyneuropathy and/or myopathy and the need for effective preventive intervent

100 ical illness polyneuropathy/critical illness myopathy and those with severe sepsis/septic shock.

101 Bethlem myopathy and Ullrich congenital muscular dystrophy (UCMD

102 s PYROXD1 variants as a cause of early-onset myopathy and uses biospecimens and cell lines, yeast, an

103 tions have been associated with myofibrillar myopathies, and cardiac involvement has been reported in

104 dy of disease-specific models, treatments of myopathies, and other tissue engineering applications.

105 ermatomyositis, polymyositis, or necrotizing myopathy, and 0/20 (0%) age-matched healthy subjects had

106 hypotrophy is a diagnostic hallmark of TPM3-myopathy, and is commonly accompanied by skewing of fibr

107 nted the HFD-induced ischemic limb necrosis, myopathy, and mitochondrial dysfunction, despite no impr

108 e evaluated in the patients with GNE-related myopathy, and the gastrocnemius, vastus lateralis, and r

109 bserved in muscles of patients with nemaline myopathy, another congenital neuromuscular disorder.

110 Congenital myopathies are a clinically and genetically heterogeneou

111 The congenital myopathies are a diverse group of genetic skeletal muscl

112 Myopathies are among the major causes of mortality in th

113 Thin filament myopathies are among the most common nondystrophic conge

114 Classically, the congenital myopathies are defined by skeletal muscle dysfunction an

115 Centronuclear myopathies are early-onset muscle diseases caused by mut

116 Congenital myopathies are genetically and clinically heterogeneous

117 iological concepts underlying the congenital myopathies are moving into sharper focus.

118 Congenital myopathies are phenotypically and genetically heterogene

119 Although structure-function details for this myopathy are evolving, function is undoubtedly driven by

120 involvement; however, the clinical signs of myopathy are mild or even absent.

121 Muscle weakness and myopathy are observed in vitamin D deficiency and chroni

122 ve mutations in humans result in early-onset myopathy, areflexia, respiratory distress, and dysphagia

123 Mutations in MEGF10 cause early onset myopathy, areflexia, respiratory distress, and dysphagia

124 ay include hypoketotic hypoglycemia, (cardio)myopathy, arrhythmia, and rhabdomyolysis and illustrates

125 ose leading to desminopathies, a subgroup of myopathies associated with progressive muscular weakness

126 system degenerative disorder, inclusion body myopathy associated with Paget disease of bone and front

127 athogenesis not only of genetic FHL1-related myopathies but also of autoimmune IIM.

128 orted in disorders with skeletal and cardiac myopathy but none has the skeletal or facial phenotype s

129 ophy is a slowly progressive but devastating myopathy caused by loss of repression of the transcripti

130 e fibers from 51 patients with thin filament myopathy caused by mutations in NEB, ACTA1, TPM2, TPM3,

131 OPMD is a dominant, late-onset myopathy, caused by an alanine-expansion mutation in the

132 tional switch is impaired by a centronuclear myopathy-causing disease mutation, S619L, highlighting t

133 tnatal skeletal muscle growth, centronuclear myopathy, central cores, Z-disc streaming, and SR dilati

134 lly and histopathologically diverse group of myopathies characterized by muscle weakness.

135 ng alpha-tropomyosinslow, cause a congenital myopathy characterized by generalized muscle weakness.

136 mutation in TPM2 gene is associated with cap myopathy characterized by high myofilament Ca(2+)-sensit

137 PAD patients experience advancing myopathy characterized by mitochondrial dysfunction, myo

138 is syndrome (MMIHS) is a congenital visceral myopathy characterized by severe dilation of the urinary

139 ed in patients presenting with mitochondrial myopathy, characterized by exercise intolerance and musc

140 rtant factor triggering the critical illness myopathy (CIM).

141 Centronuclear myopathies (CNM) are non-dystrophic muscle diseases for

142 muscular dystrophy (EDMD) and centronuclear myopathy (CNM) in Drosophila and evaluated the position

143 pathologically classified as a centronuclear myopathy (CNM).

144 rane remodeling and mutated in centronuclear myopathies (CNMs).

145 imb girdle muscular dystrophy 2B and Miyoshi myopathy, concentrates in transverse tubules of skeletal

146 long-chain triacylglycerols in mitochondrial myopathy correlate with the severity of OXPHOS dysfuncti

147 se model of slowly progressing mitochondrial myopathy (Cox10-Mef2c-Cre), and whether the compensatory

148 Myopathies decrease muscle functionality.

149 Congenital myopathies define a heterogeneous group of neuromuscular

150 herapy-ie, adverse effects of the statin-are myopathy (defined as muscle pain or weakness combined wi

151 on, this is the first demonstration in which myopathies, despite their heterogeneity, were screened o

152 One patient with severe necrotizing myopathy died.

153 es a mutation associated with desmin-related myopathy (DRM), results in an altered sarcomeric actin p

154 sis mechanisms may minimize muscle damage of myopathies due to certain RyR1 mutations.

155 Pompe disease (PD) is a metabolic myopathy due to acid alpha-glucosidase deficiency and ch

156 rategy to alleviate tissue loss and ischemic myopathy during PAD.

157 identify novel genetic causes of congenital myopathies, exome sequencing was performed in three cons

158 including nemaline myopathy, actin aggregate myopathy, fiber-type disproportion, and rod-core myopath

159 mming from recent advances in the congenital myopathy field, five key pathophysiology themes have eme

160 lar aggregate myopathy (STIM1), myofibrillar myopathy (FLNC), and mutation of CHD7, usually associate

161 an spectra from a human sample with nemaline-myopathy formed a cluster with the corresponding Drosoph

162 Atrial disease or myopathy forms the substrate for atrial fibrillation (AF

163 NM2 protein level in muscle and prevents the myopathy from developing.

164 kout models that recapitulate the congenital myopathy, gene expression, and spliceopathy defects char

165 ntified likely pathogenic mutations in known myopathy genes for 27 of 60 families.

166 the past decade, more than 20 new congenital myopathy genes have been identified.

167 he clinical phenotypes associated with known myopathy genes, and we stress the importance of accurate

168 is of critical illness polyneuropathy and/or myopathy had fewer 28-day hospital-free days (6 [0.1] vs

169 eatures, including hereditary inclusion body myopathy (hIBM) and limb-girdle muscular dystrophy (LGMD

170 n that patients with idiopathic inflammatory myopathies (IIMs) develop autoimmunity to FHL1, which is

171 Immune-mediated necrotizing myopathies (IMNM) may be associated with either anti-sig

172 McArdle disease and mitochondrial myopathy impair muscle oxidative phosphorylation (OXPHOS

173 control animals and exacerbated degenerative myopathies in dystrophin-deficient mice.

174 ns in HACD1/PTPLA cause recessive congenital myopathies in humans and dogs.

175 ogical themes, here we review the congenital myopathies in relation to these emerging pathophysiologi

176 scapulohumeral muscular dystrophy from other myopathies in selected cases.

177 I deficiency in association with either pure myopathy in adulthood or, in one individual, a severe mu

178 ntributors to the development of DOX-induced myopathy in both cardiac and skeletal muscle fibres.

179 rly onset of these defects suggest a primary myopathy in HD.

180 omodin-3 are associated with lethal nemaline myopathy in humans, and leiomodin-2-knockout mice presen

181 Efforts to model DUX4 myopathy in mice have foundered either in being too seve

182 mber 40 (KLHL40), results in a nemaline-like myopathy in mice that closely phenocopies muscle abnorma

183 erve as a viable approach to correcting ISCU myopathy in patients.

184 rotease calpain are required for DOX-induced myopathy in rat cardiac and skeletal muscle.

185 that loss of function is responsible for the myopathy in the Fhl1 W122S knock-in mice.

186 The myopathy in these mice is attributable to impaired muscl

187 Less common myopathies included metabolic myopathy (2 families), con

188 plicated in autosomal cataracts and skeletal myopathies, including heart muscle diseases (cardiomyopa

189 It is unclear whether these inherited myopathies initiated by mutations in distinct classes of

190 myopathy, one of the most common congenital myopathies is associated with mutations in various genes

191 GNE (UDP-GlcNAc 2-epimerase/ManNAc kinase) myopathy is a rare muscle disorder associated with aging

192 Intranuclear rod myopathy is a subtype of NM in which rod-like bodies are

193 GNE myopathy is an autosomal recessive muscle disease caused

194 ISCU myopathy is an inherited disease that primarily affects

195 adic inclusion body myositis is unknown, GNE myopathy is associated with mutations in GNE.

196 we suggest that p.D399Y-related myofibrillar myopathy is at least partly due to altered mechanical pr

197 linical spectrum; however, recessive Bethlem myopathy is rare, and our understanding of the molecular

198 Bethlem myopathy is relatively mild, and patients remain ambulan

199 is of critical illness polyneuropathy and/or myopathy is strongly associated with deleterious outcome

200 ave been associated with a clinical triad of myopathy, lactic acidosis, and sideroblastic anemia in p

201 r dystrophy (FSHD) is a prevalent, incurable myopathy, linked to hypomethylation of D4Z4 repeats on c

202 The aging myopathy manifests itself with diastolic dysfunction and

203 in clinical situations such as critical care myopathy, masticatory muscles do not lose mass.

204 FLNC) mutations in humans cause myofibrillar myopathy (MFM) and cardiomyopathy, characterized by prot

205 cts, and is not triggered in other zebrafish myopathy models.

206 n vivo evidence in the congenital myotubular myopathy mouse model (knock-out for the myotubularin cod

207 Myosin storage myopathy (MSM) is a congenital skeletal muscle disorder

208 Myotubular myopathy (MTM) is a devastating pediatric neuromuscular

209 here muscle function is compromised, such as myopathies, muscular dystrophies, neuromuscular diseases

210 The up(1) and Act88F(KM88) (nemaline-myopathy) mutants form a group that is clearly separated

211 n beta-cardiac myosin using the hypertrophic myopathy mutation R453C.

212 f Stac3W280S (containing the Native American myopathy mutation) partially restored Ca(2+) currents bu

213 Complications included myopathy (n = 2), varied neuropathies (n = 4), cerebella

214 Necrotizing autoimmune myopathy (NAM) is characterized pathologically by necrot

215 TAC3 causes the debilitating Native American myopathy (NAM), but the nature of how Stac3 acts on the

216 TAC3 that has been linked to Native American myopathy (NAM).

217 lin mutations are the main cause of nemaline myopathy (NEM), with typical adult patients having low e

218 human genetic diseases, including inherited myopathies, neurological disorders, and cancer, PI-conve

219 cy causes neutral lipid storage disease with myopathy (NLSDM) characterized by a systemic TG accumula

220 Nemaline myopathy (NM) is a common form of congenital nondystroph

221 Nemaline myopathies (NMs) are a group of congenital muscle diseas

222 ted with significant side effects, including myopathy of both cardiac and skeletal muscles.

223 l therapeutic targets in human patients with myopathy of central core disease (CCD).

224 asis for the developmental arrest and latent myopathy of left and right ventricles, respectively.

225 in 40 mg daily) would cause about 5 cases of myopathy (one of which might progress, if the statin the

226 Nemaline myopathy, one of the most common congenital myopathies i

227 ood lactate level accompanied by generalized myopathy; only 12 patients (71%) manifested with siderob

228 ention studies or in studies of inflammatory myopathies or muscle fibrosis, permitting greater sensit

229 e clinical events in the absence of skeletal myopathy or conduction system disorders.

230 udden cardiac death, and absence of skeletal myopathy or conduction system disorders.

231 form of HspB5 (associated with myofibrillar myopathy), or expression of the G985R and G93A mutated f

232 pidaemia; musculoskeletal disorders, such as myopathy, osteoporosis, and skeletal fractures; neuropsy

233 presenting with congenital connective tissue/myopathy overlap disorders with joint hypermobility, con

234 mal dominant disease known as inclusion body myopathy, Paget disease with frontotemporal dementia (IB

235 that a p97 mutant that causes inclusion body myopathy, Paget's disease of bone, and frontotemporal de

236 ed, in hyposialylated muscles from human GNE myopathy patients and model mice.

237 Thus, weakness in TPM3-myopathy patients can be directly attributed to reduced

238 Abnormal Ca(2+)-sensitivity in TPM3-myopathy patients suggests Ca(2+)-sensitizing drugs may

239 of therapeutic strategies for thin filament myopathy patients with shortened thin filament lengths.

240 In contrast to SP myopathy patients with the FHL1 W122S mutation, mutant m

241 e mechanism of muscle dysfunction in 12 TPM3-myopathy patients.

242 is of critical illness polyneuropathy and/or myopathy, patients with a discharge diagnosis of critica

243 e main mechanism by which AICAR improves the myopathy phenotype is by promoting muscle regeneration.

244 6, an Hsp70 co-chaperone whose defects cause myopathies, protects cells from polyglutamine toxicity a

245 linked muscle diseases: scapuloperoneal (SP) myopathy, reducing body myopathy, X-linked myopathy with

246 variants in genes associated with congenital myopathies, reflecting overlapping features of these con

247 ophy-related genes (4 families) and collagen myopathy-related genes (4 families).

248 The mechanisms responsible for DOX-mediated myopathy remain a topic of debate.

249 use model, which recapitulates thin filament myopathy, revealed a compensatory mechanism; the lower f

250 ited data are available on radiation-induced myopathy (RIM) in adult cancer survivors.

251 Markers of myalgia (intrusive body pain) and myopathy (self-reported and performance-based measures)

252 yndrome characterized by CPEO, mitochondrial myopathy, sensorineural deafness, peripheral neuropathy,

253 undergo dose-dependent hypertrophy or toxic myopathy similar to clinical outcomes.

254 is and statin-induced necrotizing autoimmune myopathy (SINAM), are rare.

255 ngenital myopathy (ACTA1), tubular aggregate myopathy (STIM1), myofibrillar myopathy (FLNC), and muta

256 ificantly lower in patients with GNE-related myopathy than in control subjects (P < .02).

257 iverse set of inherited conditions including myopathies that affect both the heart and skeletal muscl

258 ntial as a therapeutic intervention for RyR1 myopathies that are associated with ER stress.

259 sative factor of several X-linked hereditary myopathies that are collectively termed FHL1-related myo

260 s play a primary role in the skeletal muscle myopathy that characterizes T1D.

261 thologic examination revealed a degenerative myopathy that developed after birth and specifically aff

262 capulohumeral muscular dystrophy is a severe myopathy that is caused by abnormal activation of DUX4,

263 Better delineation of the atrial myopathy that serves as the substrate for AF and thrombo

264 aps complementary grouping of the congenital myopathies, that at the same time could help instil the

265 umans, and expand the spectrum of congenital myopathies to include cell-cell fusion deficits.

266 irdle muscular dystrophy type 2L and Miyoshi myopathy type 3, although the pathogenic mechanism has r

267 mages, the adPEO- but not the cardiomyopathy/myopathy-type Aac2 proteins form large aggregates.

268 up-to-date approaches to evaluate the atrial myopathy underlying AF.

269 mechanisms for the pathogenesis of visceral myopathy (VM) have been rarely demonstrated.

270 Necrotizing autoimmune myopathy was idiopathic in half of this cohort with clin

271 Clinical skeletal myopathy was not observed.

272 Because 90% of IBMPFD patients have myopathy, we generated an in vivo IBMPFD model in adult

273 on ultrastructural defects in mitochondrial myopathy, we investigated skeletal muscle biopsies from

274 is of critical illness polyneuropathy and/or myopathy, we matched 3,436 of these patients to 3,436 IC

275 9.8] years) with YARS2-related mitochondrial myopathy were identified.

276 titutive, C-terminal mutations caused severe myopathy whereas N-terminal mutations demonstrated mild

277 muscle results in cardiomyopathy or nemaline myopathy, whereas complete loss of Tmods leads to failur

278 eveloping muscle, during regeneration and in myopathies, which together suggests that SPARC might ser

279 atins are associated with muscle myalgia and myopathy, which probably reduce habitual physical activi

280 en associated with myasthenia and congenital myopathy, while a mix of loss and gain of function chang

281 The phenotypic overlap of ANO5 myopathies with dysferlin-associated muscular dystrophie

282 receptor 1 (RyR1) are often associated with myopathies with microscopic core-like structures in the

283 umulate in sIBM tissue or when mutated cause myopathies with RVs.

284 Adult-onset inherited myopathies with similar pathological features, including

285 splay clinical and pathological hallmarks of myopathy with core-like structures.

286 oreductase PYROXD1 as a cause of early-onset myopathy with distinctive histopathology and introduce a

287 Mitochondrial myopathy with lactic acidosis and sideroblastic anemia (

288 lar dystrophy (FSHD: MIM#158900) is a common myopathy with marked but largely unexplained clinical in

289 We characterize MYMK-CFZS as a congenital myopathy with marked facial weakness and additional clin

290 which manifests predominantly in children as myopathy with mtDNA depletion.

291 protein (VCP) mutations cause inclusion body myopathy with Paget disease and frontotemporal dementia.

292 ) myopathy, reducing body myopathy, X-linked myopathy with postural muscle atrophy, rigid spine syndr

293 ion body myositis, a late-onset inflammatory myopathy with prominent mitochondrial changes.

294 knock-down recapitulate features of PYROXD1 myopathy with sarcomeric disorganization, myofibrillar a

295 Its inheritable D244G mutation causes a myopathy with vacuolar aggregates, whereas its M87T "var

296 ial effects in mouse models of mitochondrial myopathies, with induction of mitochondrial biogenesis a

297 neration, aged mice developed a degenerative myopathy, with scattered myocytes containing ubiquitinat

298 scapuloperoneal (SP) myopathy, reducing body myopathy, X-linked myopathy with postural muscle atrophy

299 and often fatal X-linked form of myotubular myopathy (XLMTM) is caused by mutations in the gene enco

300 disease of skeletal muscle named myotubular myopathy (XLMTM).