ライフサイエンスコーパス: myopathy

1 lso analyzed from IVIG-treated patients with myopathy.

2 is thus a new genetically determined distal myopathy.

3 is independent of the presence of an atrial myopathy.

4 l fiber-type disproportion and centronuclear myopathy.

5 shows that its loss is sufficient to induce myopathy.

6 drial damage, which may contribute to muscle myopathy.

7 ce exercise and AF is dependent on an atrial myopathy.

8 1 deficiency induced reduced muscle mass and myopathy.

9 is of critical illness polyneuropathy and/or myopathy.

10 s and contractility properties in neurogenic myopathy.

11 ies with a slowly progressive congenital cap myopathy.

12 have been associated with SMA or congenital myopathy.

13 uclei, evoke a slow progressive degenerative myopathy.

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

15 ral patients exhibiting symptoms of nemaline myopathy.

16 thies that include nemaline and myofibrillar myopathy.

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

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

19 dative stress as a therapeutic target in GNE myopathy.

20 ly ACTA1 is associated with intranuclear rod myopathy.

21 ubtype of CIPO characterized by degenerative myopathy.

22 eriodic paralysis, myasthenia, or congenital myopathy.

23 imb girdle muscular dystrophy 2B and Miyoshi myopathy.

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

25 iate the pathology of ACTA1-related nemaline myopathy.

26 uction disease and signs of a primary atrial myopathy.

27 as observed in humans with hnRNPA2B1-related myopathy.

28 d to several diseases, such as mitochondrial myopathy.

29 motor phenotype and delayed the onset of the myopathy.

30 reportedly show cardiac defects and skeletal myopathy.

31 isoforms result in congenital multi-minicore myopathy.

32 form of recessive congenital TNNT1 core-rod myopathy.

33 h may improve management of hypophosphatemic myopathy.

34 ations in SVIL cause a distinctive and novel myopathy.

35 evant treatment phase of obstructive bladder myopathy.

36 whose X-linked mutations lead to autophagic myopathy.

37 h ocular surface disease, and 1 with orbital myopathy.

38 suffering from an autosomal dominant distal myopathy.

39 letal muscle revealed signs of mitochondrial myopathy.

40 s for their potential as a treatment for GNE myopathy.

41 hy (FSHD) is a prevalent, incurable skeletal myopathy.

42 rosis, vasculitis or idiopathic inflammatory myopathies.

43 he SRR, several of which are associated with myopathies.

44 ies a potential novel target to treat muscle myopathies.

45 o human vertebral segmentation disorders and myopathies.

46 he main pathological symptom of myofibrillar myopathies.

47 on at pre-symptomatic stages of myofibrillar myopathies.

48 ht into the mechanisms underlying congenital myopathies.

49 Mutations in the RYR1 gene cause severe myopathies.

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

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

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

53 cts in EC coupling are associated with human myopathies.

54 se transcriptional co-activators in skeletal myopathies.

55 iological changes observed in desmin-related myopathies.

56 e, core, centronuclear, and cytoplasmic-body myopathies.

57 of muscle stress, particularly mitochondrial myopathies.

58 iological mechanism underlying this class of myopathies.

59 with altered contractile activity and lethal myopathies.

60 shed role in muscle development and skeletal myopathies.

61 athy in the broader field of calcium-related myopathies.

62 ating disease but only minimally in acquired myopathies.

63 , in subjects with FSHD or affected by other myopathies.

64 lt cardiomyocytes for the treatment of heart myopathies.

65 ible for muscular dystrophies and congenital myopathies.

66 ogy and broaden the genetic spectrum of LGMD myopathies.

67 el therapeutic agent for focal or asymmetric myopathies.

68 onents have been shown to be altered in many myopathies.

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 Sialic acid deficiency is a hallmark of GNE myopathy, a rare congenital disorder of glycosylation (C

72 nts with CHF and provide new insights on the myopathy accompanying CHF.

73 ic inflammatory myopathy and the most common myopathy affecting people older than 50 years.

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

75 in KBTBD13 that is associated with nemaline myopathy alters the protein's effects on actin, apparent

76 omeostasis in muscles as observed in several myopathies and aging.

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

78 considered for patients with uncharacterized myopathies and cardiomyopathies.

79 Mutations in the human desmin gene cause myopathies and cardiomyopathies.

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

81 muscle promotes the development of metabolic myopathies and insulin resistance.

82 us R405W-desmin knock-in mice develop both a myopathy and a cardiomyopathy.

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 g in the left atrium (LA) that begets atrial myopathy and arrhythmias.

86 utations cause childhood-onset mitochondrial myopathy and cardiomyopathy.

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

88 termine the implications of left atrial (LA) myopathy and dysrhythmia across the spectrum of AF burde

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

90 tal muscle-specific loss of Brca1 leads to a myopathy and mitochondriopathy characterized by reductio

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

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

93 orm to address substrate deficiencies in GNE myopathy and other CDGs.

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

95 udy expands the phenotypic spectrum of TNNT1 myopathy and provides functional evidence for the pathog

96 pendent risk factors for simvastatin-related myopathy and relevance to different types of muscle symp

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

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

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

100 body myositis is an idiopathic inflammatory myopathy and the most common myopathy affecting people o

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

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

103 ology of many neurodegenerative diseases and myopathies, and it suggests new targets for disease inte

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 ild intellectual disability, similar facies, myopathy, and cerebral white matter hyperintensities, wi

107 cluding multiminicore disease, centronuclear myopathy, and congenital fiber type disproportion.

108 ins cause laminopathies, including progeria, myopathy, and dystonia, though the extent to which endog

109 tion, abnormal cerebral blood flow, skeletal myopathy, and intrinsic kidney disease.

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

111 disease manifests by severe cardiomyopathy, myopathy, and neuropsychiatric problems.

112 n Glu180 of TNNT1 gene causes Amish nemaline myopathy (ANM), a recessively inherited disease with inf

113 Congenital myopathies are a clinically and genetically heterogeneou

114 Thin filament myopathies are among the most common nondystrophic conge

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

116 Congenital myopathies are phenotypically and genetically heterogene

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

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

119 logical mechanisms underlying COL4A1-related myopathy are unknown.

120 The classic phenotype, early onset myopathy, areflexia, respiratory distress and dysphagia,

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

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

123 ors accompanied by clonus) of Amish nemaline myopathy, as well as of other recessively inherited TNNT

124 lies with a childhood/adolescence onset of a myopathy associated with homozygous loss-of-function mut

125 , and energetic mechanisms of cardioskeletal myopathy associated with myosin RLC.

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

127 nditions such as mitochondrial neuropathies, myopathies, cardiovascular disorders, and Parkinson and

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

129 of impaired relaxation kinetics is nemaline myopathy caused by mutations in KBTBD13 (NEM6).

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

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

132 efective in cells expressing a centronuclear-myopathy-causing DNM2 mutant.

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

134 yopathies (CNMs) are a subtype of congenital myopathies characterized by skeletal muscle weakness and

135 Brody disease is an autosomal recessive myopathy characterized by exercise-induced muscle stiffn

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

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

138 ar dystrophy (FSHD) is an autosomal-dominant myopathy characterized by slowly progressive skeletal mu

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

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

141 fibroblasts from patients with centronuclear myopathy (CNM) and in Cos-7 cells expressing correspondi

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

143 namin 2, whose mutations cause centronuclear myopathy (CNM), regulates both clathrin plaques and surr

144 pathologically classified as a centronuclear myopathy (CNM).

145 Centronuclear myopathies (CNMs) are a subtype of congenital myopathies

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

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

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

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 e myopathy phenotype reminiscent of nemaline myopathy despite the majority of nebulin being localized

152 haracteristic in severe skeletal and cardiac myopathies, diabetes, and neurodegeneration, and partly

153 One patient with severe necrotizing myopathy died.

154 IVIG-treated patients with myopathy displayed enhanced expression of CD69 on basoph

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 s potential therapeutic compounds for MEGF10 myopathy, especially sertraline.

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

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

160 collagen VI lead to a spectrum of congenital myopathies, from the mild Bethlem myopathy to the severe

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

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

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

164 mistry and pathophysiology of recessive RYR1 myopathies, here we investigated a mouse model we recent

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

166 tential mechanisms underlying inclusion body myopathy (IBM) and related disorders.

167 e (PDB)-like syndrome-such as inclusion body myopathy (IBM) associated with Paget's disease of bone a

168 Idiopathic inflammatory myopathies (IIM) involve chronic inflammation of skeleta

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

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

171 actin cytoskeleton differentiation, and the myopathies in cofilin2 and CAP2 mutant mice showed strik

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

173 scapulohumeral muscular dystrophy from other myopathies in selected cases.

174 2(IV) secretion can ameliorate or exacerbate myopathy in a mutation-dependent manner.

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

176 exon of FXR1 cause congenital multi-minicore myopathy in humans and mice.

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

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

179 s and contractility properties in neurogenic myopathy in mice.

180 drolase activity in muscle leads to skeletal myopathy in mice.

181 d recognition of Brody disease as a distinct myopathy in the broader field of calcium-related myopath

182 receptor 1 (RYR1) mutations cause congenital myopathies including multiminicore disease (MmD), congen

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

184 are associated with several human congenital myopathies, including the dominantly inherited central c

185 pidly progressive fatal cardiac and skeletal myopathy incompletely attenuated by synthetic GAA intrav

186 rcise in the setting of an underlying atrial myopathy increases the incidence of spontaneous AF.

187 ons in MYBPC1 with a dominant, mild skeletal myopathy invariably associated with a distinctive tremor

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

189 Skeletal myopathy is a known statin-induced adverse effect associ

190 MEGF10 myopathy is a rare inherited muscle disease that is name

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 ISCU myopathy is an inherited disease that primarily affects

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

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

196 Alcoholic myopathy is more prevalent than all inherited muscle dis

197 iquitin and TDP-43-positive inclusions; this myopathy is similar to that caused by VCP/p97 mutations,

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

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

200 n deficiency (RIRCD) is a rare mitochondrial myopathy leading to severe metabolic disturbances in inf

201 hy (FSHD) is a prevalent, inherited skeletal myopathy linked to hypomethylation of the D4Z4 macrosate

202 r dystrophy (FSHD) is a prevalent, incurable myopathy, linked to epigenetic derepression of D4Z4 repe

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

204 ongenital muscular dystrophy with megaconial myopathy (MDCMC) is an autosomal recessive disorder char

205 N2 mutations to shed light on their possible myopathy mechanisms.

206 lts in a severe childhood-onset myofibrillar myopathy (MFM) associated with progressive muscle weakne

207 Desmin-associated myofibrillar myopathy (MFM) has pathologic similarities to neurodegen

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

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

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

211 autoimmune mechanisms of complement-mediated myopathies, myasthenia, peripheral neuropathies, neuromy

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

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

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

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

216 pes including cardiomyopathy, lipodystrophy, myopathy, neuropathy, progeria, bone/skin disorders, and

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

218 he nebulin gene (NEB) cause typical nemaline myopathy (NM), a muscle disorder characterized by muscle

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

220 This skeletal myopathy occurred despite normal capillary density (516

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

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

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

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

225 mutations associated with tubular aggregate myopathy or cancer that targeted the canonical EF hand,

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

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

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

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

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

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

232 A1 gene or next generation sequencing with a myopathy panel.

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

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

235 tent stem cell-derived myoblasts from MEGF10 myopathy patients, mutant Drosophila that are deficient

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

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

238 vealed that the truncation caused a moderate myopathy phenotype reminiscent of nemaline myopathy desp

239 perturbed by pathological conditions (e.g., myopathies), physiological adaptations (e.g., beta-adren

240 ed at counteracting the skeletal and cardiac myopathy present in dystrophic patients.

241 y(-1) ), starting at the onset of neurogenic myopathy, prevents disruption of autophagic flux in skel

242 6, an Hsp70 co-chaperone whose defects cause myopathies, protects cells from polyglutamine toxicity a

243 Mild skeletal myopathy/proximal muscle weakness was noted in 6 (29%) p

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

245 well as of other recessively inherited TNNT1 myopathies, remain to be clarified.

246 ic lateral sclerosis/frontotemporal dementia/myopathy, respectively.

247 Barth syndrome is a mitochondrial myopathy resulting from mutations in the tafazzin (TAZ)

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

249 Ryanodine receptor type I (RYR1)-related myopathies (RYR1 RM) are a clinically and histopathologi

250 Ryanodine receptor type I-related myopathies (RYR1-RMs) are a common group of childhood mu

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

252 he first 3 years of life; myoclonic epilepsy myopathy sensory ataxia; ataxia neuropathy spectrum; aut

253 annels ABCC9-related Intellectual disability Myopathy Syndrome (AIMS).

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

255 tations have been associated with congenital myopathies that include nemaline and myofibrillar myopat

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

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

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

259 T1 (TNNT1) gene are a rare cause of nemaline myopathy that is fatal in infancy due to respiratory ins

260 15L strain is the first murine model of BAG3 myopathy that resembles the human skeletal muscle pathol

261 ction as well as the development of nemaline myopathy, the contributions of this region remain largel

262 osis in cancer cells, increasing the risk of myopathy, the most common adverse effect associated with

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

264 ntify therapeutic interventions targeting LA myopathy to improve outcomes in HFpEF.

265 congenital myopathies, from the mild Bethlem myopathy to the severe Ullrich congenital muscular dystr

266 ed and shown to segregate perfectly with the myopathy/tremor phenotype in the respective families.

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

268 ns of mtDNA that manifest predominantly as a myopathy usually beginning in childhood and progressing

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

270 Clinical skeletal myopathy was not observed.

271 pe, characteristic of BIN1 mutants linked to myopathies, was rescued when the membrane charge was mad

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

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

274 9.8] years) with YARS2-related mitochondrial myopathy were identified.

275 egans exhibits the key features of alcoholic myopathy when exposed to ethanol.

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

277 ying mutations in exon-15 display non-lethal myopathies which vary in severity depending on the speci

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

279 ceptor activation in rodents with neurogenic myopathy, which display impaired skeletal muscle autopha

280 In skeletal muscle, ethanol causes alcoholic myopathy, which is characterized by myofiber atrophy and

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

282 ns in the CAV3 gene cause different types of myopathies with altered membrane integrity and repair, e

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

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

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

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

287 ering from an autosomal dominant progressive myopathy with highly characteristic sarcoplasmic inclusi

288 lly simulate human IOPD, displaying skeletal myopathy with late-onset hypertrophic cardiomyopathy.

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 oscopic investigations revealed a structural myopathy with numerous lobulated muscle fibres and consi

292 models, skeletal muscles exhibited a chronic myopathy with ongoing muscle fiber necrosis and regenera

293 ibroblasts from patients with inclusion body myopathy with Paget's disease of bone and frontotemporal

294 capulohumeral muscular dystrophy (FSHD) is a myopathy with prevalence of 1 in 20,000.

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

296 eins ULK1 and ULK2 in mice causes a vacuolar myopathy with ubiquitin and TDP-43-positive inclusions;

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

298 x and contractility properties in neurogenic myopathy, without affecting the cross-sectional area.

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).