(Q35112060)

6 August 2017

1 reference

title

Congenital myopathies at their molecular dawning (English)

1 reference

6 August 2017

0 references

1 reference

26 December 2023

author name string

Hans H. Goebel

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12707973

26 December 2023

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=12707973

26 December 2023

publication date

1 May 2003

1 reference

full work available at URL

6 August 2017

https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fmus.10322

1 reference

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mus.10322

26 December 2023

1 reference

26 December 2023

1 reference

6 August 2017

volume

27

1 reference

6 August 2017

issue

5

1 reference

6 August 2017

page(s)

527-548

1 reference

Axonal filamentous spheroids associated with cardiomyopathy with "targetoid fibers". I. Clinical, histologic, and electron microscopic studies.

6 August 2017

cites work

1 reference

Broad A bands of striated muscle in Leber's congenital amaurosis: a new congenital myopathy?

21 January 2018

1 reference

Vimentin and desmin in maturing skeletal muscle and developmental myopathies

21 January 2018

1 reference

21 January 2018

1 reference

A novel de novo mutation in the desmin gene causes desmin myopathy with toxic aggregates.

21 January 2018

1 reference

Myopathy with tubulin-reactive crystalline inclusions

21 January 2018

1 reference

Desmin myopathy involving cardiac, skeletal, and vascular smooth muscle: report of a case with immunoelectron microscopy

21 January 2018

1

1 reference

CONGENITAL NONPROGRESSIVE MYOPATHY. CENTRAL CORE DISEASE AND NEMALINE MYOPATHY IN ONE FAMILY

26 December 2023

2

1 reference

Lack of desmin results in abortive muscle regeneration and modifications in synaptic structure

26 December 2023

3

1 reference

The wide spectrum of myofibrillar myopathy suggests a multifactorial etiology and pathogenesis

26 December 2023

4

1 reference

Passive stiffness is increased in soleus muscle of desmin knockout mouse

26 December 2023

5

1 reference

Identification and localization of a new human myotubularin-related protein gene, mtmr8, on 8p22-p23.

26 December 2023

6

1 reference

Restrictive Cardiomyopathy, Atrioventricular Block and Mild to Subclinical Myopathy in Patients With Desmin-Immunoreactive Material Deposits

26 December 2023

7

1 reference

Desmin myopathy: a multisystem disorder involving skeletal, cardiac, and smooth muscle

26 December 2023

9

1 reference

X-linked myotubular myopathy with fatal neonatal asphyxia

26 December 2023

10

1 reference

X-linked myotubular myopathy--a long-term follow-up study

26 December 2023

11

1 reference

Alpha B-crystallin in cardiac tissue. Association with actin and desmin filaments

26 December 2023

12

1 reference

Nemaline myopathy: two autopsy reports

26 December 2023

13

1 reference

Involvement of respiratory muscles in cytoplasmic body myopathy — A pathological study—

26 December 2023

14

1 reference

Neuromyopathy and restrictive cardiomyopathy with accumulation of intermediate filaments: a clinical, morphological and biochemical study.

26 December 2023

15

1 reference

Reducing body myopathy and desmin storage in skeletal muscle: morphological and biochemical findings

26 December 2023

16

1 reference

Myotubularin, a phosphatase deficient in myotubular myopathy, acts on phosphatidylinositol 3-kinase and phosphatidylinositol 3-phosphate pathway

26 December 2023

17

1 reference

Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2.

26 December 2023

18

1 reference

Fatal congenital myopathy with actin filament deposits

26 December 2023

19

1 reference

Myopathy with hexagonally cross-linked tubular arrays: a new autosomal dominant or sporadic congenital myopathy

26 December 2023

20

1 reference

Mutation R120G in alphaB-crystallin, which is linked to a desmin-related myopathy, results in an irregular structure and defective chaperone-like function

26 December 2023

21

1 reference

Congenital nemaline myopathy due to ACTA1-gene mutation and carnitine insufficiency: a case report

26 December 2023

24

1 reference

Subsarcolemmal vermiform deposits in skeletal muscle, associated with familial cardiomyopathy: report of two cases of a new entity

26 December 2023

25

1 reference

Inclusions in familial cytoplasmic body myopathy are stained by anti-dystrophin antibodies

26 December 2023

27

1 reference

Cytoplasmic body myopathy: familial cases with accumulation of desmin and dystrophin. An immunohistochemical, immunoelectron microscopic and biochemical study

26 December 2023

28

1 reference

Desmin phosphorylation abnormalities in cytoplasmic body and desmin-related myopathies

26 December 2023

29

1 reference

A mutation in alpha-tropomyosin(slow) affects muscle strength, maturation and hypertrophy in a mouse model for nemaline myopathy

26 December 2023

31

1 reference

Association of SET domain and myotubularin-related proteins modulates growth control

26 December 2023

32

1 reference

Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene

26 December 2023

34

1 reference

Sequential muscle biopsy changes in a case of congenital myopathy

26 December 2023

35

1 reference

Centronuclear myopathy: clinical, morphological and genetic characters. A review of 288 cases

26 December 2023

36

1 reference

Patterns of abnormal protein expression in target formations and unstructured cores

26 December 2023

38

1 reference

Myopathology in patients with a Noonan phenotype

26 December 2023

39

1 reference

Workshop report of the 89th ENMC International Workshop: Central Core Disease, 19th-20th January 2001, Hilversum, The Netherlands.

26 December 2023

40

1 reference

Characterization of mutations in the myotubularin gene in twenty six patients with X-linked myotubular myopathy

26 December 2023

41

1 reference

Mutations in the beta-tropomyosin (TPM2) gene--a rare cause of nemaline myopathy

26 December 2023

42

1 reference

A new type of hereditary distal myopathy with characteristic sarcoplasmic bodies and intermediate (skeletin) filaments

26 December 2023

43

1 reference

26 December 2023

Myofibrillar myopathy

46

1 reference

Missense mutations in the beta-myosin heavy-chain gene cause central core disease in hypertrophic cardiomyopathy

26 December 2023

47

1 reference

Multi-minicore disease--searching for boundaries: phenotype analysis of 38 cases

26 December 2023

51

1 reference

80th ENMC International Workshop on Multi-Minicore Disease: 1st International MmD Workshop. 12-13th May, 2000, Soestduinen, The Netherlands

26 December 2023

52

1 reference

A recessive form of central core disease, transiently presenting as multi-minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 gene

26 December 2023

53

1 reference

Mallory body-like inclusions in a hereditary congenital neuromuscular disease

26 December 2023

54

1 reference

A new familial congenital myopathy in children with desmin and dystrophin reacting plaques

26 December 2023

55

1 reference

Familial inclusion body myopathy with desmin storage

26 December 2023

56

1 reference

Expression of cell surface and cytoskeleton developmentally regulated proteins in adult centronuclear myopathies.

26 December 2023

57

1 reference

Hirano body filaments contain actin and actin-associated proteins

26 December 2023

58

1 reference

Aggregation of actin and cofilin in identical twins with juvenile-onset dystonia

26 December 2023

59

1 reference

Congenital myopathy with fiber type disproportion: a family with a chromosomal translocation t(10;17) may indicate candidate gene regions

26 December 2023

60

1 reference

Autosomal dominant ?spheroid body myopathy?

26 December 2023

61

1 reference

Congenital myopathy with cytoplasmic bodies

26 December 2023

62

1 reference

Centronuclear myopathy with special consideration of the adult form

26 December 2023

63

1 reference

Immunohistologic and electron microscopic abnormalities of desmin and dystrophin in familial cardiomyopathy and myopathy

26 December 2023

65

1 reference

26 December 2023

Congenital myopathies

66

1 reference

Familial desmin-related myopathies and cardiomyopathies--from myopathology to molecular and clinical genetics. 36th European Neuromuscular Center (ENMC)-Sponsored International Workshop 20-22 October, 1995, Naarden, The Netherlands

26 December 2023

67

1 reference

Congenital myopathy with excess of thin myofilaments

26 December 2023

69

1 reference

Spheroid body myopathy revisited

26 December 2023

70

1 reference

Structural congenital myopathies (excluding nemaline myopathy, myotubular myopathy and desminopathies): 56th European Neuromuscular Centre (ENMC) sponsored International Workshop. December 12-14, 1997, Naarden, The Netherlands.

26 December 2023

72

1 reference

Gene-related protein surplus myopathies

26 December 2023

73

1 reference

Progress in desmin-related myopathies

26 December 2023

74

1 reference

Surplus protein myopathies

26 December 2023

75

1 reference

Reducing body myopathy with cytoplasmic bodies and rigid spine syndrome: a mixed congenital myopathy

26 December 2023

76

1 reference

Protein surplus myopathies and other rare congenital myopathies

26 December 2023

78

1 reference

Missense mutations in desmin associated with familial cardiac and skeletal myopathy

26 December 2023

81

1 reference

A new phenotype of autosomal dominant nemaline myopathy

26 December 2023

82

1 reference

Structural and functional analysis of a new desmin variant causing desmin-related myopathy

26 December 2023

83

1 reference

Nebulin expression in patients with nemaline myopathy

26 December 2023

85

1 reference

Ultrastructural pathology in emetine-induced myopathy

26 December 2023

86

1 reference

A clinical and genetic study of a manifesting heterozygote with X-linked myotubular myopathy

26 December 2023

87

1 reference

AlphaB-crystallin regulates intermediate filament organization in situ

26 December 2023

88

1 reference

Hereditary distal myopathy with granulo-filamentous cytoplasmic inclusions containing desmin, dystrophin and vimentin

26 December 2023

89

1 reference

Experimental emetine myopathy: enzyme histochemical, electron microscopic, and immunomorphological studies

26 December 2023

90

1 reference

Autosomal dominant distal myopathy with desmin storage: a clinicopathologic and electrophysiologic study of a large kinship

26 December 2023

91

1 reference

Mutations in the 5' region of the myotubularin-related protein 2 (MTMR2) gene in autosomal recessive hereditary neuropathy with focally folded myelin

26 December 2023

92

1 reference

Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene

26 December 2023

94

1 reference

Nebulin is normally expressed in nemaline myopathy

26 December 2023

95

1 reference

Congenital nemaline myopathy with dilated cardiomyopathy: an autopsy study

26 December 2023

96

1 reference

Cytoplasmic body neuromyopathy presenting as respiratory failure and weight loss

26 December 2023

97

1 reference

A novel nemaline myopathy in the Amish caused by a mutation in troponin T1

26 December 2023

98

1 reference

Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle alpha-actin (ACTA1) gene

26 December 2023

99

1 reference

Genetics and pathogenesis of malignant hyperthermia

26 December 2023

100

1 reference

Neuromuscular disorders: gene location

26 December 2023

101

1 reference

Heterozygous myogenic factor 6 mutation associated with myopathy and severe course of Becker muscular dystrophy

26 December 2023

103

1 reference

Mechanical properties and structure of carotid arteries in mice lacking desmin

26 December 2023

105

1 reference

A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy

26 December 2023

107

1 reference

Fetal akinesia sequence caused by nemaline myopathy

26 December 2023

108

1 reference

A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast

26 December 2023

110

1 reference

Mutations in the MTM1 gene implicated in X-linked myotubular myopathy. ENMC International Consortium on Myotubular Myopathy. European Neuro-Muscular Center

26 December 2023

111

1 reference

MTM1 mutations in X-linked myotubular myopathy

26 December 2023

112

1 reference

The myotubularin family: from genetic disease to phosphoinositide metabolism

26 December 2023

113

1 reference

Diagnosis of X-linked myotubular myopathy by detection of myotubularin.

26 December 2023

114

1 reference

Cardiovascular lesions and skeletal myopathy in mice lacking desmin.

26 December 2023

116

1 reference

Familial cardiomyopathy and distal myopathy with abnormal desmin accumulation and migration

26 December 2023

118

1 reference

Adult-onset nemaline myopathy: Another cause of dropped head

26 December 2023

119

1 reference

alpha B crystallin expression in non-lenticular tissues and selective presence in ubiquitinated inclusion bodies in human disease.

26 December 2023

120

1 reference

A mutation in the transmembrane/luminal domain of the ryanodine receptor is associated with abnormal Ca2+ release channel function and severe central core disease

26 December 2023

121

1 reference

A severe clinical and pathological variant of central core disease with possible autosomal recessive inheritance

26 December 2023

123

1 reference

Pleocore disease. Multi-minicore disease and focal loss of cross striations

26 December 2023

124

1 reference

Dominant hereditary inclusion-body myopathy gene (IBM3) maps to chromosome region 17p13.1.

26 December 2023

125

1 reference

Reversible ipecac myopathy

26 December 2023

126

1 reference

Ryanodine receptor mutations in malignant hyperthermia and central core disease

26 December 2023

127

1 reference

Nemaline myopathy appearing in adults as cardiomyopathy. A clinicopathologic study

26 December 2023

128

1 reference

Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy linked to chromosome 10q

26 December 2023

129

1 reference

A nemaline myopathy mutation in alpha-tropomyosin causes defective regulation of striated muscle force production

26 December 2023

130

1 reference

Disruption of muscle architecture and myocardial degeneration in mice lacking desmin

26 December 2023

131

1 reference

Abnormal distribution of desmin and vimentin in myofibers in adult onset myotubular myopathy

26 December 2023

132

1 reference

An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor

26 December 2023

133

1 reference

Alteration of tropomyosin function and folding by a nemaline myopathy-causing mutation.

26 December 2023

134

1 reference

Broad A band disease: a new benign congenital myopathy.

26 December 2023

136

1 reference

Dominantly inherited myopathy with novel tubular aggregates containing 1-21 tubulofilamentous structures

26 December 2023

137

1 reference

Nemaline cardiomyopathy in a young adult: an ultraimmunohistochemical study and review of the literature.

26 December 2023

138

1 reference

A dysfunctional desmin mutation in a patient with severe generalized myopathy

26 December 2023

139

1 reference

Myofibrillar myopathy with abnormal foci of desmin positivity. I. Light and electron microscopy analysis of 10 cases

26 December 2023

140

1 reference

Myofibrillar myopathy. III. Abnormal expression of cyclin-dependent kinases and nuclear proteins

26 December 2023

141

1 reference

Autosomal dominant myopathy with proximal weakness and early respiratory muscle involvement maps to chromosome 2q.

26 December 2023

142

1 reference

Deficiency of a skeletal muscle isoform of α-actinin (α-actinin-3) in merosin-positive congenital muscular dystrophy

26 December 2023

143

1 reference

Nemaline myopathy: current concepts. The ENMC International Consortium and Nemaline Myopathy

26 December 2023

144

1 reference

A common nonsense mutation results in alpha-actinin-3 deficiency in the general population.

26 December 2023

145

1 reference

Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy

26 December 2023

146

1 reference

The cytoplasmic bodies in a congenital myopathy can be stained with antibodies to desmin, the muscle-specific intermediate filament protein

26 December 2023

148

1 reference

Sporadic cardiac and skeletal myopathy caused by a de novo desmin mutation

26 December 2023

149

1 reference

Desmin splice variants causing cardiac and skeletal myopathy

26 December 2023

150

1 reference

Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy

26 December 2023

151

1 reference

The cardiomyopathy and lens cataract mutation in alphaB-crystallin alters its protein structure, chaperone activity, and interaction with intermediate filaments in vitro.

26 December 2023

153

1 reference

Congenital myopathy associated with abnormal accumulation of desmin and dystrophin

26 December 2023

154

1 reference

Asymptomatic familial hyperCKemia associated with desmin accumulation in skeletal muscle

26 December 2023

155

1 reference

Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia

26 December 2023

156

1 reference

Storage of phosphorylated desmin in a familial myopathy

26 December 2023

157

1 reference

Familial mixed congenital myopathy with rigid spine phenotype

26 December 2023

158

1 reference

Myopathy with multiple minicore--report of two siblings

26 December 2023

159

1 reference

Nemaline myopathy: a clinical study of 143 cases

26 December 2023

160

1 reference

Linkage of hereditary distal myopathy with desmin accumulation to 2q

26 December 2023

161

1 reference

Peripheral neuropathy with giant axons and cardiomyopathy associated with desmin type intermediate filaments in skeletal muscle

26 December 2023

162

1 reference

Neonatal Myotubular Myopathy: Neuropathy and Failure of Postnatal Maturation of Fetal Muscle

26 December 2023

163

1 reference

Myotubular myopathy: arrest of morphogenesis of myofibres associated with persistence of fetal vimentin and desmin. Four cases compared with fetal and neonatal muscle.

26 December 2023

164

1 reference

New insights into the pathogenesis of congenital myopathies

26 December 2023

166

1 reference

A novel ryanodine receptor gene mutation causing both cores and rods in congenital myopathy

26 December 2023

168

1 reference

'An artefact gone awry': identification of the first case of nemaline myopathy by Dr R.D.K. Reye

26 December 2023

169

1 reference

Adult-onset mixed myopathy with nemaline rods, minicores, and central cores: a muscle disorder mimicking polymyositis

26 December 2023

171

1 reference

26 December 2023

AAEM news and comments

172

1 reference

Abnormalities in the expression of nebulin in chromosome-2 linked nemaline myopathy.

26 December 2023

174

1 reference

Familial centronuclear myopathy: a clinical and pathological study

26 December 2023

175

1 reference

A new congenital non-progressive myopathy

26 December 2023

176

1 reference

A missense mutation in the desmin rod domain is associated with autosomal dominant distal myopathy, and exerts a dominant negative effect on filament formation

26 December 2023

177

1 reference

Nemaline myopathy and cardiomyopathy

26 December 2023

178

1 reference

Absence of desmin slightly prolongs myoblast proliferation and delays fusion in vivo in regenerating grafts of skeletal muscle

26 December 2023

179

1 reference

An unusual familial cardiomyopathy characterized by aberrant accumulations of desmin-type intermediate filaments

26 December 2023

181

1 reference

Nemaline myopathy with associated cardiomyopathy. Report of clinical and detailed autopsy findings

26 December 2023

182

1 reference

Congenital myopathy with central cores and fingerprint bodies in association with malignant hyperthermia susceptibility

26 December 2023

183

1 reference

Familial multicore disease with focal loss of cross-striations and ophthalmoplegia

26 December 2023

185

1 reference

A double mutation in a patient with X-linked myotubular myopathy

26 December 2023

186

1 reference

Homozygosity for a nonsense mutation in the alpha-tropomyosin slow gene TPM3 in a patient with severe infantile nemaline myopathy

26 December 2023

189

1 reference

Cardiac rod body: hypertrophic Z-line in an aged pony

26 December 2023

190

1 reference

Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere

26 December 2023

192

1 reference

Null mutation in the desmin gene gives rise to a cardiomyopathy.

26 December 2023

193

1 reference

Two siblings with nemaline myopathy presenting with rigid spine syndrome

26 December 2023

194

1 reference

Familial desminopathy: myopathy with accumulation of desmin-type intermediate filaments

26 December 2023

195

1 reference

Coexistence of minicores, cores, and rods in the same muscle biopsy. A new example of mixed congenital myopathy

26 December 2023

196

1 reference

Nemaline myopathy associated with hypertrophic cardiomyopathy

26 December 2023

197

1 reference

Familial "myotubular" myopathy

26 December 2023

198

1 reference

Familial focal loss of cross striations

26 December 2023

199

1 reference

Severe insulin-resistant diabetes mellitus in patients with congenital muscle fiber type disproportion myopathy

26 December 2023

200

1 reference

Human desmin gene: cDNA sequence, regional localization and exclusion of the locus in a familial desmin-related myopathy.

26 December 2023

201

1 reference

A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy

26 December 2023

202

1 reference

Expression of cytoskeleton proteins in central core disease.

26 December 2023

203

1 reference

Alternative splicing of exon 17 and a missense mutation in exon 20 of the insulin receptor gene in two brothers with a novel syndrome of insulin resistance (congenital fiber-type disproportion myopathy).

26 December 2023

204

1 reference

Alpha-actinin and myosin light chains in congenital nemaline myopathy

26 December 2023

206

1 reference

A gene for autosomal recessive nemaline myopathy assigned to chromosome 2q by linkage analysis

26 December 2023

207

1 reference

The myotubular myopathies: differential diagnosis of the X linked recessive, autosomal dominant, and autosomal recessive forms and present state of DNA studies

26 December 2023

208

1 reference

Alpha-actinin in nemaline bodies in congenital nemaline myopathy: immunological confirmation by light and electron microscopy

26 December 2023

209

1 reference

Genetics of the nemaline myopathies and the myotubular myopathies

26 December 2023

210

1 reference

Nemaline and myotubular myopathies

26 December 2023

211

1 reference

Myopathy with trabecular muscle fibers

26 December 2023

212

1 reference

Chromosome 12-linked autosomal dominant scapuloperoneal muscular dystrophy

26 December 2023

213

1 reference

Mechanisms of neurodegenerative disorders: Part 1: protein aggregates.

26 December 2023

214

1 reference

A second locus for autosomal dominant myopathy with proximal muscle weakness and early respiratory muscle involvement: a likely chromosomal locus on 2q21

26 December 2023

215

1 reference

Nemaline myopathy rod bodies. Structure and composition

26 December 2023

216

1 reference

Centronuclear myopathy: clinical aspects of ten Brazilian patients with childhood onset

26 December 2023

217

1 reference

A mutation in the human ryanodine receptor gene associated with central core disease

26 December 2023

218

1 reference

26 December 2023

Identifiers

DOI

10.1002/MUS.10322

1 reference

6 August 2017

1 reference