Clinical utility gene card for: Centronuclear and myotubular myopathies.

PubWeight™: 0.88‹?›

🔗 View Article (PMC 3449068)

Published in Eur J Hum Genet on May 23, 2012

Authors

Valérie Biancalana1, Alan H Beggs, Soma Das, Heinz Jungbluth, Wolfram Kress, Ichizo Nishino, Kathryn North, Norma B Romero, Jocelyn Laporte

Author Affiliations

1: Laboratoire de Diagnostic Génétique, Faculté de Médecine-CHRU, 1 place de l'Hôpital, Strasbourg, France. valerie.biancalana@chru-strasbourg.fr

Articles cited by this

Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease. Nat Genet (2005) 2.79

Centronuclear (myotubular) myopathy. Orphanet J Rare Dis (2008) 2.53

Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy. Nat Genet (2007) 2.48

Mutations in dynamin 2 cause dominant centronuclear myopathy. Nat Genet (2005) 2.33

Characterization of the muscle involvement in dynamin 2-related centronuclear myopathy. Brain (2006) 1.88

Centronuclear myopathies: a widening concept. Neuromuscul Disord (2010) 1.88

"Necklace" fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy. Acta Neuropathol (2008) 1.83

RYR1 mutations are a common cause of congenital myopathies with central nuclei. Ann Neurol (2010) 1.75

MTM1 mutations in X-linked myotubular myopathy. Hum Mutat (2000) 1.72

EuroGentest: DNA-based testing for heritable disorders in Europe. Community Genet (2008) 1.63

Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype. Hum Genet (2002) 1.41

A novel PtdIns3P and PtdIns(3,5)P2 phosphatase with an inactivating variant in centronuclear myopathy. Hum Mol Genet (2006) 1.33

Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset. Ann Neurol (2007) 1.29

Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene. Neuromuscul Disord (2007) 1.28

Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy. Hum Mutat (2012) 1.25

Characterization of mutations in fifty North American patients with X-linked myotubular myopathy. Hum Mutat (2002) 1.22

Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization. Neuropathol Appl Neurobiol (2011) 1.22

Prevalence of congenital myopathies in a representative pediatric united states population. Ann Neurol (2011) 1.22

Dynamin 2 mutations associated with human diseases impair clathrin-mediated receptor endocytosis. Hum Mutat (2009) 1.19

Two novel mutations in dynamin-2 cause axonal Charcot-Marie-Tooth disease. Neurology (2007) 1.16

Mutations in the MTM1 gene implicated in X-linked myotubular myopathy. ENMC International Consortium on Myotubular Myopathy. European Neuro-Muscular Center. Hum Mol Genet (1997) 1.15

Diagnosis of X-linked myotubular myopathy by detection of myotubularin. Ann Neurol (2001) 1.11

Characterization of mutations in the myotubularin gene in twenty six patients with X-linked myotubular myopathy. Hum Mol Genet (1997) 1.08

Phenotype of a patient with recessive centronuclear myopathy and a novel BIN1 mutation. Neurology (2010) 1.05

Subtle central and peripheral nervous system abnormalities in a family with centronuclear myopathy and a novel dynamin 2 gene mutation. Neuromuscul Disord (2007) 1.02

Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy. Neuromuscul Disord (2010) 1.01

Characterization of MTM1 mutations in 31 Japanese families with myotubular myopathy, including a patient carrying 240 kb deletion in Xq28 without male hypogenitalism. Neuromuscul Disord (2005) 1.00

X-inactivation patterns in carriers of X-linked myotubular myopathy. Neuromuscul Disord (2003) 0.99

Dynamin 2-related centronuclear myopathy: clinical, histological and genetic aspects of further patients and review of the literature. Clin Neuropathol (2009) 0.96

Deletions in Xq28 in two boys with myotubular myopathy and abnormal genital development define a new contiguous gene syndrome in a 430 kb region. Hum Mol Genet (1996) 0.95

A novel mutation in the dynamin 2 gene in a Charcot-Marie-Tooth type 2 patient: clinical and pathological findings. Neuromuscul Disord (2008) 0.95

MRI in DNM2-related centronuclear myopathy: evidence for highly selective muscle involvement. Neuromuscul Disord (2006) 0.95

Characterization of 34 novel and six known MTM1 gene mutations in 47 unrelated X-linked myotubular myopathy patients. Neuromuscul Disord (1999) 0.93

Case report of intrafamilial variability in autosomal recessive centronuclear myopathy associated to a novel BIN1 stop mutation. Orphanet J Rare Dis (2010) 0.91

Novel molecular diagnostic approaches for X-linked centronuclear (myotubular) myopathy reveal intronic mutations. Neuromuscul Disord (2010) 0.89

Adult course in dynamin 2 dominant centronuclear myopathy with neonatal onset. Neuromuscul Disord (2009) 0.88

Heterozygous myogenic factor 6 mutation associated with myopathy and severe course of Becker muscular dystrophy. Neuromuscul Disord (2000) 0.85

X-linked myotubular myopathy due to a complex rearrangement involving a duplication of MTM1 exon 10. Neuromuscul Disord (2011) 0.83

Articles by these authors

Guidelines for the use and interpretation of assays for monitoring autophagy in higher eukaryotes. Autophagy (2007) 20.92

Guidelines for the use and interpretation of assays for monitoring autophagy. Autophagy (2012) 20.08

A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. Nat Genet (2005) 9.62

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007. Genet Med (2008) 9.13

Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies. Nature (2002) 5.21

Multiple serotonergic brainstem abnormalities in sudden infant death syndrome. JAMA (2006) 5.10

Genetic variants in the UDP-glucuronosyltransferase 1A1 gene predict the risk of severe neutropenia of irinotecan. J Clin Oncol (2004) 5.06

Variant of SCN5A sodium channel implicated in risk of cardiac arrhythmia. Science (2002) 4.40

Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations. Proc Natl Acad Sci U S A (2005) 4.14

Adiponectin and AdipoR1 regulate PGC-1alpha and mitochondria by Ca(2+) and AMPK/SIRT1. Nature (2010) 4.12

Distinctive patterns of microRNA expression in primary muscular disorders. Proc Natl Acad Sci U S A (2007) 3.72

Assuring the quality of next-generation sequencing in clinical laboratory practice. Nat Biotechnol (2012) 3.62

Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients. Am J Hum Genet (2008) 3.29

Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia. Am J Hum Genet (2006) 3.17

ACTN3 genotype is associated with human elite athletic performance. Am J Hum Genet (2003) 3.12

Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia. Blood (2008) 3.05

Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy. J Clin Invest (2009) 3.05

LARGE can functionally bypass alpha-dystroglycan glycosylation defects in distinct congenital muscular dystrophies. Nat Med (2004) 3.00

Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. Brain (2007) 2.88

Skeletal muscle FOXO1 (FKHR) transgenic mice have less skeletal muscle mass, down-regulated Type I (slow twitch/red muscle) fiber genes, and impaired glycemic control. J Biol Chem (2004) 2.72

Gene expression comparison of biopsies from Duchenne muscular dystrophy (DMD) and normal skeletal muscle. Proc Natl Acad Sci U S A (2002) 2.60

Centronuclear (myotubular) myopathy. Orphanet J Rare Dis (2008) 2.53

Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy. Nat Genet (2007) 2.48

Comprehensive pharmacogenetic analysis of irinotecan neutropenia and pharmacokinetics. J Clin Oncol (2009) 2.47

Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy. Nat Genet (2005) 2.38

Mutations in dynamin 2 cause dominant centronuclear myopathy. Nat Genet (2005) 2.33

Expression profiling and identification of novel genes involved in myogenic differentiation. FASEB J (2003) 2.30

Reproducibility of gene expression across generations of Affymetrix microarrays. BMC Bioinformatics (2003) 2.20

Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia. J Clin Invest (2012) 2.15

Retracted VMA21 deficiency causes an autophagic myopathy by compromising V-ATPase activity and lysosomal acidification. Cell (2009) 2.11

Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy. Neurology (2013) 2.09

Control of autophagy initiation by phosphoinositide 3-phosphatase Jumpy. EMBO J (2009) 2.07

The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update. Hum Mutat (2010) 2.03

Technical standards and guidelines: molecular genetic testing for ultra-rare disorders. Genet Med (2005) 2.00

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge. Genome Biol (2014) 1.95

Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2. Brain (2013) 1.93

Pharmacogenomic and pharmacokinetic determinants of erlotinib toxicity. J Clin Oncol (2008) 1.91

The lipid phosphatase myotubularin is essential for skeletal muscle maintenance but not for myogenesis in mice. Proc Natl Acad Sci U S A (2002) 1.91

Characterization of the muscle involvement in dynamin 2-related centronuclear myopathy. Brain (2006) 1.88

Misregulated alternative splicing of BIN1 is associated with T tubule alterations and muscle weakness in myotonic dystrophy. Nat Med (2011) 1.87

Myasthenia in pregnancy: best practice guidelines from a U.K. multispecialty working group. J Neurol Neurosurg Psychiatry (2013) 1.83

T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase. Proc Natl Acad Sci U S A (2009) 1.83

Clinical spectrum of homozygous and heterozygous PINK1 mutations in a large German family with Parkinson disease: role of a single hit? Arch Neurol (2006) 1.83

RNA and protein evidence for haplo-insufficiency in Diamond-Blackfan anaemia patients with RPS19 mutations. Br J Haematol (2004) 1.76

Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation. Hum Mutat (2004) 1.76

RYR1 mutations are a common cause of congenital myopathies with central nuclei. Ann Neurol (2010) 1.75

Homocysteine, pharmacogenetics, and neurotoxicity in children with leukemia. J Clin Oncol (2003) 1.75

Benign hereditary chorea related to NKX2.1: expansion of the genotypic and phenotypic spectrum. Dev Med Child Neurol (2013) 1.75

Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2. Am J Hum Genet (2006) 1.73

CAPN3 mutations in patients with idiopathic eosinophilic myositis. Ann Neurol (2006) 1.73

Thin filament length dysregulation contributes to muscle weakness in nemaline myopathy patients with nebulin deficiency. Hum Mol Genet (2009) 1.73

Myotubularin regulates the function of the late endosome through the gram domain-phosphatidylinositol 3,5-bisphosphate interaction. J Biol Chem (2004) 1.73

Type I interferon-inducible gene expression in blood is present and reflects disease activity in dermatomyositis and polymyositis. Arthritis Rheum (2007) 1.72

BRCA1 promoter methylation in sporadic breast cancer is associated with reduced BRCA1 copy number and chromosome 17 aneusomy. Cancer Res (2005) 1.71

Retracted A Gne knockout mouse expressing human V572L mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy. Hum Mol Genet (2006) 1.70

The exon 55 deletion in the nebulin gene--one single founder mutation with world-wide occurrence. Neuromuscul Disord (2009) 1.70

Genotype-phenotype correlations in Noonan syndrome. J Pediatr (2004) 1.70

Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13. Hum Mol Genet (2011) 1.70

The phosphoinositide kinase PIKfyve/Fab1p regulates terminal lysosome maturation in Caenorhabditis elegans. Mol Biol Cell (2006) 1.66

Endosomal phosphoinositides and human diseases. Traffic (2008) 1.64

Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in diamond-blackfan anemia. Hum Mutat (2012) 1.64

MTM1 mutation associated with X-linked myotubular myopathy in Labrador Retrievers. Proc Natl Acad Sci U S A (2010) 1.64

X-linked myotubular and centronuclear myopathies. J Neuropathol Exp Neurol (2005) 1.61

Lysosomal myopathies: an excessive build-up in autophagosomes is too much to handle. Neuromuscul Disord (2008) 1.61

Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome. Am J Hum Genet (2012) 1.60

Production of phosphatidylinositol 5-phosphate by the phosphoinositide 3-phosphatase myotubularin in mammalian cells. J Biol Chem (2003) 1.58

Prophylactic treatment with sialic acid metabolites precludes the development of the myopathic phenotype in the DMRV-hIBM mouse model. Nat Med (2009) 1.57

Genetic variants contributing to daunorubicin-induced cytotoxicity. Cancer Res (2008) 1.57

Rapid and accurate diagnosis of facioscapulohumeral muscular dystrophy. Neuromuscul Disord (2006) 1.56

Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations. Am J Hum Genet (2005) 1.55

Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1). Hum Mutat (2009) 1.54

Ancestry and pharmacogenetics of antileukemic drug toxicity. Blood (2007) 1.52

Reduction of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase activity and sialylation in distal myopathy with rimmed vacuoles. J Biol Chem (2004) 1.52

Altered thymidine metabolism due to defects of thymidine phosphorylase. J Biol Chem (2001) 1.52

Genotype-phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle alpha-actin. Neuromuscul Disord (2004) 1.52

Hereditary myopathy with early respiratory failure: occurrence in various populations. J Neurol Neurosurg Psychiatry (2013) 1.52

Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies. Brain (2007) 1.52

Brain involvement in muscular dystrophies with defective dystroglycan glycosylation. Ann Neurol (2008) 1.52

Association analysis of the ACTN3 R577X polymorphism and complex quantitative body composition and performance phenotypes in adolescent Greeks. Eur J Hum Genet (2006) 1.51

The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis. J Med Genet (2011) 1.50

Facioscapulohumeral muscular dystrophy presenting with isolated axial myopathy and bent spine syndrome. Muscle Nerve (2010) 1.50

Sequential actions of myotubularin lipid phosphatases regulate endosomal PI(3)P and growth factor receptor trafficking. Mol Biol Cell (2008) 1.48

Pharmacogenetic risk factors for osteonecrosis of the hip among children with leukemia. J Clin Oncol (2004) 1.48

Platinum sensitivity-related germline polymorphism discovered via a cell-based approach and analysis of its association with outcome in ovarian cancer patients. Clin Cancer Res (2011) 1.47

Extreme phenotypic variability in a German family with X-linked myotubular myopathy associated with E404K mutation in MTM1. Neuromuscul Disord (2006) 1.46

Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy. Am J Hum Genet (2013) 1.46

Defective ribosomal protein gene expression alters transcription, translation, apoptosis, and oncogenic pathways in Diamond-Blackfan anemia. Stem Cells (2006) 1.46

Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies. Am J Hum Genet (2002) 1.46

Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy. Am J Hum Genet (2009) 1.44