Mapping a gene for congenital fibrosis of the extraocular muscles to the centromeric region of chromosome 12.

PubWeight™: 1.51‹?› | Rank: Top 4%

🔗 View Article (PMID 8075644)

Published in Nat Genet on May 01, 1994

Authors

E C Engle1, L M Kunkel, L A Specht, A H Beggs

Author Affiliations

1: Department of Neurology, Howard Hughes Medical Institute, Children's Hospital, Harvard Medical School, Boston, Massachusetts 02115.

Articles citing this

Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family. Am J Hum Genet (2002) 2.47

Congenital abnormalities of cranial nerve development: overview, molecular mechanisms, and further evidence of heterogeneity and complexity of syndromes with congenital limitation of eye movements. Trans Am Ophthalmol Soc (2004) 1.31

Congenital fibrosis of the extraocular muscles (autosomal dominant congenital external ophthalmoplegia): genetic homogeneity, linkage refinement, and physical mapping on chromosome 12. Am J Hum Genet (1995) 1.30

Congenital fibrosis of the extraocular muscles type 2, an inherited exotropic strabismus fixus, maps to distal 11q13. Am J Hum Genet (1998) 1.20

A gene for isolated congenital ptosis maps to a 3-cM region within 1p32-p34.1. Am J Hum Genet (1997) 1.19

Evidence of an asymmetrical endophenotype in congenital fibrosis of extraocular muscles type 3 resulting from TUBB3 mutations. Invest Ophthalmol Vis Sci (2010) 1.15

CFEOM1, the classic familial form of congenital fibrosis of the extraocular muscles, is genetically heterogeneous but does not result from mutations in ARIX. BMC Genet (2002) 1.14

Abnormalities of the oculomotor nerve in congenital fibrosis of the extraocular muscles and congenital oculomotor palsy. Invest Ophthalmol Vis Sci (2007) 1.09

Phenotypic heterogeneity may occur in congenital fibrosis of the extraocular muscles. Br J Ophthalmol (1998) 0.96

The genetics of strabismus. J Med Genet (2004) 0.92

Congenital innervation dysgenesis syndrome (CID)/congenital cranial dysinnervation disorders (CCDDs). Eye (Lond) (2011) 0.86

Sarcospan: a small protein with large potential for Duchenne muscular dystrophy. Skelet Muscle (2013) 0.85

Recurrent mutation of the KIF21A gene in Japanese patients with congenital fibrosis of the extraocular muscles. Jpn J Ophthalmol (2005) 0.85

Congenital fibrosis syndrome associated with central nervous system abnormalities. Graefes Arch Clin Exp Ophthalmol (2003) 0.85

KIF21A mutations in two Chinese families with congenital fibrosis of the extraocular muscles (CFEOM). Mol Vis (2010) 0.85

Lack of KIF21A mutations in congenital fibrosis of the extraocular muscles type I patients from consanguineous Saudi Arabian families. Mol Vis (2011) 0.84

Locus heterogeneity in autosomal dominant congenital external ophthalmoplegia (CFEOM). J Med Genet (1998) 0.84

Genes on bovine chromosome 18 associated with bilateral convergent strabismus with exophthalmos in German Brown cattle. Mol Vis (2008) 0.77

Clinical and surgical data of affected members of a classic CFEOM I family. BMC Ophthalmol (2003) 0.76

Analysis of human sarcospan as a candidate gene for CFEOM1. BMC Genet (2001) 0.75

KIF21A mutation in two Chinese families with congenital fibrosis of the extraocular muscles type 1 and 3. Mol Med Rep (2016) 0.75

Congenital cranial dysinnervation disorders. Int Ophthalmol (2016) 0.75

Articles by these authors

Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell (1987) 20.27

Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell (1987) 16.01

Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants. Proc Natl Acad Sci U S A (1977) 13.87

The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein. Cell (1988) 10.75

Dystrophin expression in the mdx mouse restored by stem cell transplantation. Nature (1999) 7.73

Genotype-phenotype correlation in the long-QT syndrome: gene-specific triggers for life-threatening arrhythmias. Circulation (2001) 7.47

Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis. Nat Genet (2000) 7.39

An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus. Genomics (1988) 6.51

Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene. Nature (1986) 6.45

Cloning the gene for an inherited human disorder--chronic granulomatous disease--on the basis of its chromosomal location. Nature (1986) 6.34

Specific cloning of DNA fragments absent from the DNA of a male patient with an X chromosome deletion. Proc Natl Acad Sci U S A (1985) 5.50

Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction. Hum Genet (1990) 5.16

The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion. Am J Hum Genet (1989) 5.09

Regional localization on the human X of DNA segments cloned from flow sorted chromosomes. Nucleic Acids Res (1982) 4.67

Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment. Nature (1985) 4.62

Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy. Nature (1986) 4.13

Conversion of mdx myofibres from dystrophin-negative to -positive by injection of normal myoblasts. Nature (1989) 4.08

Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy. Science (1995) 3.66

Duchenne muscular dystrophy: deficiency of dystrophin at the muscle cell surface. Cell (1988) 3.57

Immunoelectron microscopic localization of dystrophin in myofibres. Nature (1988) 3.37

Prenatal diagnosis and carrier detection of Duchenne muscular dystrophy with closely linked RFLPs. Lancet (1985) 3.08

Exploring the molecular basis for variability among patients with Becker muscular dystrophy: dystrophin gene and protein studies. Am J Hum Genet (1991) 2.79

The homologue of the Duchenne locus is defective in X-linked muscular dystrophy of dogs. Nature (1988) 2.75

Detailed analysis of the repeat domain of dystrophin reveals four potential hinge segments that may confer flexibility. J Biol Chem (1990) 2.69

Localization and cloning of Xp21 deletion breakpoints involved in muscular dystrophy. Hum Genet (1987) 2.64

The structural and functional diversity of dystrophin. Nat Genet (1993) 2.43

Alternative splicing of human dystrophin mRNA generates isoforms at the carboxy terminus. Nature (1989) 2.43

A genome-wide scan for linkage to human exceptional longevity identifies a locus on chromosome 4. Proc Natl Acad Sci U S A (2001) 2.42

Competitive binding of alpha-actinin and calmodulin to the NMDA receptor. Nature (1997) 2.41

A common nonsense mutation results in alpha-actinin-3 deficiency in the general population. Nat Genet (1999) 2.27

Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. Proc Natl Acad Sci U S A (1999) 2.27

The fate of individual myoblasts after transplantation into muscles of DMD patients. Nat Med (1997) 2.24

Molecular profiles of inflammatory myopathies. Neurology (2002) 2.21

Rapid detection of CA polymorphisms in cloned DNA: application to the 5' region of the dystrophin gene. Am J Hum Genet (1991) 2.17

Dystrophin abnormalities in Duchenne/Becker muscular dystrophy. Neuron (1989) 2.13

A physical map of 4 million bp around the Duchenne muscular dystrophy gene on the human X-chromosome. Cell (1986) 2.12

Localization of dystrophin to postsynaptic regions of central nervous system cortical neurons. Nature (1991) 2.11

Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy. Nat Genet (1999) 2.04

Dystrophin is transcribed in brain from a distant upstream promoter. Proc Natl Acad Sci U S A (1991) 2.04

A 10-megabase physical map of human Xp21, including the Duchenne muscular dystrophy gene. Genomics (1988) 2.04

Human Y-chromosome-specific reiterated DNA. Science (1976) 2.02

Differential expression of the actin-binding proteins, alpha-actinin-2 and -3, in different species: implications for the evolution of functional redundancy. Hum Mol Genet (2001) 2.01

Cloning and characterization of two human skeletal muscle alpha-actinin genes located on chromosomes 1 and 11. J Biol Chem (1992) 1.91

Long-range genomic map of the Duchenne muscular dystrophy (DMD) gene: isolation and use of J66 (DXS268), a distal intragenic marker. Genomics (1987) 1.89

Filamin 2 (FLN2): A muscle-specific sarcoglycan interacting protein. J Cell Biol (2000) 1.82

Improved diagnosis of Becker muscular dystrophy by dystrophin testing. Neurology (1989) 1.81

Subcellular fractionation of dystrophin to the triads of skeletal muscle. Nature (1988) 1.81

Direct method for prenatal diagnosis and carrier detection in Duchenne/Becker muscular dystrophy using the entire dystrophin cDNA. Am J Med Genet (1988) 1.80

Clinical and genetic heterogeneity in nemaline myopathy--a disease of skeletal muscle thin filaments. Trends Mol Med (2001) 1.76

Conservation of the Duchenne muscular dystrophy gene in mice and humans. Science (1987) 1.66

Syntrophin binds to an alternatively spliced exon of dystrophin. J Cell Biol (1995) 1.65

Immunolocalization and developmental expression of dystrophin related protein in skeletal muscle. Neuromuscul Disord (1991) 1.65

Clinical course correlates poorly with muscle pathology in nemaline myopathy. Neurology (2003) 1.63

Identification of a chromosome 6-encoded dystrophin-related protein. J Biol Chem (1990) 1.60

The subcellular distribution of dystrophin in mouse skeletal, cardiac, and smooth muscle. J Cell Biol (1991) 1.59

Dystrophies and heart disease. Curr Opin Cardiol (1997) 1.58

Primary adhalin deficiency as a cause of muscular dystrophy in patients with normal dystrophin. Ann Neurol (1995) 1.58

Nemaline myopathy: a clinical study of 143 cases. Ann Neurol (2001) 1.57

5-Azacytidine-induced reactivation of a herpes simplex thymidine kinase gene. Science (1982) 1.56

Effect of ageing on reactivation of the human X-linked HPRT locus. Nature (1988) 1.55

Caveolin-3 in muscular dystrophy. Hum Mol Genet (1998) 1.55

An alternative dystrophin transcript specific to peripheral nerve. Nat Genet (1993) 1.53

Localization of DNA sequences in region Xp21 of the human X chromosome: search for molecular markers close to the Duchenne muscular dystrophy locus. Am J Hum Genet (1985) 1.52

Oculomotor nerve and muscle abnormalities in congenital fibrosis of the extraocular muscles. Ann Neurol (1997) 1.49

The dystrophin associated protein complex in zebrafish. Hum Mol Genet (2003) 1.48

Skewed X inactivation in a female MZ twin results in Duchenne muscular dystrophy. Am J Hum Genet (1990) 1.48

Myozenin: an alpha-actinin- and gamma-filamin-binding protein of skeletal muscle Z lines. Proc Natl Acad Sci U S A (2001) 1.45

Identification and isolation of transcribed human X chromosome DNA sequences. Nucleic Acids Res (1983) 1.45

Mutation of the gene for IsK associated with both Jervell and Lange-Nielsen and Romano-Ward forms of Long-QT syndrome. Circulation (1998) 1.45

Dystrobrevin and dystrophin: an interaction through coiled-coil motifs. Proc Natl Acad Sci U S A (1997) 1.45

Differential membrane localization and intermolecular associations of alpha-dystrobrevin isoforms in skeletal muscle. J Cell Biol (1998) 1.44

Dystrophin diagnosis: comparison of dystrophin abnormalities by immunofluorescence and immunoblot analyses. Proc Natl Acad Sci U S A (1989) 1.40

Mutations that disrupt the carboxyl-terminus of gamma-sarcoglycan cause muscular dystrophy. Hum Mol Genet (1996) 1.39

Expressed cadherin pseudogenes are localized to the critical region of the spinal muscular atrophy gene. Proc Natl Acad Sci U S A (1995) 1.37

Mutational analysis of the PEX gene in patients with X-linked hypophosphatemic rickets. Am J Hum Genet (1997) 1.37

Identification of a candidate modifying gene for spinal muscular atrophy by comparative genomics. Nat Genet (1998) 1.34

Loss of FilaminC (FLNc) results in severe defects in myogenesis and myotube structure. Mol Cell Biol (2006) 1.34

Mild and severe muscular dystrophy caused by a single gamma-sarcoglycan mutation. Am J Hum Genet (1996) 1.33

Detection of mutations in the dystrophin gene via automated DHPLC screening and direct sequencing. BMC Genet (2001) 1.31

A polymorphic CACA repeat in the 3' untranslated region of dystrophin. Nucleic Acids Res (1990) 1.31

Complementary DNA probes for the Duchenne muscular dystrophy locus demonstrate a previously undetectable deletion in a patient with dystrophic myopathy, glycerol kinase deficiency, and congenital adrenal hypoplasia. J Clin Invest (1989) 1.30

Congenital fibrosis of the extraocular muscles (autosomal dominant congenital external ophthalmoplegia): genetic homogeneity, linkage refinement, and physical mapping on chromosome 12. Am J Hum Genet (1995) 1.30

Cell and fiber-type distribution of dystrophin. Neuron (1988) 1.30

Human skeletal muscle-specific alpha-actinin-2 and -3 isoforms form homodimers and heterodimers in vitro and in vivo. Biochem Biophys Res Commun (1998) 1.29

The sarcoglycan complex in the six autosomal recessive limb-girdle muscular dystrophies. Hum Mol Genet (1996) 1.29

The genomic organization of human dystrobrevin. Neurogenetics (1997) 1.29

Preservation of the C-terminus of dystrophin molecule in the skeletal muscle from Becker muscular dystrophy. J Neurol Sci (1991) 1.28

Cloning and characterization of the human homologue of a dystrophin related phosphoprotein found at the Torpedo electric organ post-synaptic membrane. Hum Mol Genet (1996) 1.28

beta-dystrobrevin, a new member of the dystrophin family. Identification, cloning, and protein associations. J Biol Chem (1997) 1.27

DNA linkage analysis of X chromosome-linked chronic granulomatous disease. Proc Natl Acad Sci U S A (1986) 1.27

Differential regional expression and ultrastructural localization of alpha-actinin-2, a putative NMDA receptor-anchoring protein, in rat brain. J Neurosci (1998) 1.26

Isolation of mouse x-chromosome specific DNA from an x-enriched lambda phage library derived from flow sorted chromosomes. Cytometry (1982) 1.24

Mutations of the slow muscle alpha-tropomyosin gene, TPM3, are a rare cause of nemaline myopathy. Neurology (2002) 1.24

A third restriction endonuclease from Xanthomonas malvacearum. J Mol Biol (1979) 1.24

Mapping of human microtubule-associated protein 1B in proximity to the spinal muscular atrophy locus at 5q13. Proc Natl Acad Sci U S A (1991) 1.24