Muscle pain, fatigue, and mitochondriopathies.

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Published in N Engl J Med on September 30, 1999

Authors

R C Griggs, G Karpati

Articles by these authors

(truncated to the top 100)

The Duchenne muscular dystrophy gene product is localized in sarcolemma of human skeletal muscle. Nature (1988) 3.85

Randomized, double-blind six-month trial of prednisone in Duchenne's muscular dystrophy. N Engl J Med (1989) 3.32

Andersen's syndrome: potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features. Ann Neurol (1994) 2.82

The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy. Nat Genet (2001) 2.71

Inclusion body myositis and myopathies. Ann Neurol (1995) 2.68

Correlating phenotype and genotype in the periodic paralyses. Neurology (2004) 2.55

Identification of a mutation in the gene causing hyperkalemic periodic paralysis. Cell (1991) 2.48

Dystrophin is localized to the plasma membrane of human skeletal muscle fibers by electron-microscopic cytochemical study. Muscle Nerve (1990) 2.41

The route of administration is a major determinant of the transduction efficiency of rat tissues by adenoviral recombinants. Gene Ther (1995) 2.39

Distribution and threshold expression of the tRNA(Lys) mutation in skeletal muscle of patients with myoclonic epilepsy and ragged-red fibers (MERRF). Am J Hum Genet (1992) 2.17

The primary periodic paralyses: diagnosis, pathogenesis and treatment. Brain (2005) 2.17

Dihydropyridine receptor mutations cause hypokalemic periodic paralysis. Cell (1994) 2.15

A distinct form of adult polyglucosan body disease with massive involvement of central and peripheral neuronal processes and astrocytes: a report of four cases and a review of the occurrence of polyglucosan bodies in other conditions such as Lafora's disease and normal ageing. Brain (1980) 2.08

Clinical trial in Duchenne dystrophy. I. The design of the protocol. Muscle Nerve (1981) 2.06

Clinical investigation in Duchenne dystrophy: 2. Determination of the "power" of therapeutic trials based on the natural history. Muscle Nerve (1983) 1.99

Late-onset mitochondrial myopathy. Ann Neurol (1995) 1.98

Primary episodic ataxias: diagnosis, pathogenesis and treatment. Brain (2007) 1.91

Deletion mutants are functionally dominant over wild-type mitochondrial genomes in skeletal muscle fiber segments in mitochondrial disease. Cell (1990) 1.90

Duchenne muscular dystrophy: patterns of clinical progression and effects of supportive therapy. Neurology (1989) 1.90

Dystrophin-deficient mdx muscle fibers are preferentially vulnerable to necrosis induced by experimental lengthening contractions. J Neurol Sci (1990) 1.78

Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita. Neuron (1992) 1.75

Emergence of early region 1-containing replication-competent adenovirus in stocks of replication-defective adenovirus recombinants (delta E1 + delta E3) during multiple passages in 293 cells. Hum Gene Ther (1994) 1.74

Characterization of the gene encoding human sarcolipin (SLN), a proteolipid associated with SERCA1: absence of structural mutations in five patients with Brody disease. Genomics (1997) 1.70

Myotonic dystrophy with no trinucleotide repeat expansion. Ann Neurol (1994) 1.68

The non-dystrophic myotonias: molecular pathogenesis, diagnosis and treatment. Brain (2009) 1.65

Inclusion body myositis: a distinct variety of idiopathic inflammatory myopathy. Neurology (1978) 1.65

Leucine incorporation into mixed skeletal muscle protein in humans. Am J Physiol (1988) 1.62

Evidence for anticipation and association of deletion size with severity in facioscapulohumeral muscular dystrophy. The FSH-DY Group. Ann Neurol (1996) 1.60

Clinical phenotypes of different MPZ (P0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination. Neuron (1996) 1.58

Dystrophin-deficient cardiomyocytes are abnormally vulnerable to mechanical stress-induced contractile failure and injury. FASEB J (2001) 1.54

Improving adherence to dementia guidelines through education and opinion leaders. A randomized, controlled trial. Ann Intern Med (1999) 1.53

Various types of hereditary inclusion body myopathies map to chromosome 9p1-q1. Ann Neurol (1997) 1.53

Specific involvement of muscle, nerve, and skin in late infantile and juvenile amaurotic idiocy. Neurology (1972) 1.51

Type I fiber hypotrophy and central nuclei. A rare congenital muscle abnormality with a possible experimental model. Arch Neurol (1968) 1.47

"Type grouping" in skeletal muscles after experimental reinnervation. Neurology (1968) 1.46

Ekbom's syndrome: lipomas, ataxia, and neuropathy with MERRF. Muscle Nerve (1994) 1.44

Duchenne muscular dystrophy: plasma membrane loss initiates muscle cell necrosis unless it is repaired. Brain (1979) 1.44

Sequence of changes in body composition induced by testosterone and reversal of changes after drug is stopped. JAMA (1992) 1.43

Andersen's syndrome: a distinct periodic paralysis. Ann Neurol (1997) 1.42

Acetazolamide treatment of hypokalemic periodic paralysis. Prevention of attacks and improvement of persistent weakness. Ann Intern Med (1970) 1.41

Dystrophic phenotype of canine X-linked muscular dystrophy is mitigated by adenovirus-mediated utrophin gene transfer. Gene Ther (2003) 1.41

A differential efficiency of adenovirus-mediated in vivo gene transfer into skeletal muscle cells of different maturity. Hum Mol Genet (1994) 1.41

Combined central and peripheral myelinopathy. Neurology (1987) 1.40

Long-term benefit from prednisone therapy in Duchenne muscular dystrophy. Neurology (1991) 1.40

Mutations in the gene-encoding SERCA1, the fast-twitch skeletal muscle sarcoplasmic reticulum Ca2+ ATPase, are associated with Brody disease. Nat Genet (1996) 1.40

The syndrome of systemic carnitine deficiency. Clinical, morphologic, biochemical, and pathophysiologic features. Neurology (1975) 1.38

Giant axonal neuropathy. A clinically and morphologically distinct neurological disease. Arch Neurol (1974) 1.34

Sodium channel mutations in acetazolamide-responsive myotonia congenita, paramyotonia congenita, and hyperkalemic periodic paralysis. Neurology (1994) 1.33

Hereditary paroxysmal ataxia: response to acetazolamide. Neurology (1978) 1.33

A novel heteroplasmic tRNAleu(CUN) mtDNA point mutation in a sporadic patient with mitochondrial encephalomyopathy segregates rapidly in skeletal muscle and suggests an approach to therapy. Hum Mol Genet (1996) 1.31

Sodium channel inactivation defects are associated with acetazolamide-exacerbated hypokalemic periodic paralysis. Ann Neurol (2001) 1.31

A new concept of childhood nemaline myopathy. Arch Neurol (1971) 1.30

The ultrastructural characteristics of the abnormal cytosomes in Batten-Kufs' disease. Brain (1977) 1.29

Myoclonus epilepsy and ragged-red fibres (MERRF). 1. A clinical, pathological, biochemical, magnetic resonance spectrographic and positron emission tomographic study. Brain (1989) 1.29

Plasma exchange and intravenous immunoglobulin treatment of neuromuscular disease. Ann Neurol (1994) 1.28

Genotype-phenotype correlations of DHP receptor alpha 1-subunit gene mutations causing hypokalemic periodic paralysis. Neuromuscul Disord (1997) 1.24

Expression of the primary coxsackie and adenovirus receptor is downregulated during skeletal muscle maturation and limits the efficacy of adenovirus-mediated gene delivery to muscle cells. Hum Gene Ther (1999) 1.24

Late onset hereditary distal myopathy. Neurology (1974) 1.24

Subacute skeletal myopathy induced by 2,4-dichlorophenoxyacetate in rats and guinea pigs. Muscle Nerve (1979) 1.23

Small-caliber skeletal muscle fibers do not suffer deleterious consequences of dystrophic gene expression. Am J Med Genet (1986) 1.22

Histochemical investigation of fiber type ratios with the myofibrillar ATP-ase reaction in normal and denervated skeletal muscles of guinea pig. Am J Anat (1968) 1.22

Impaired skeletal muscle maturation following neonatal neurectomy. Dev Biol (1968) 1.21

Hereditary myokymia and periodic ataxia. J Neurol Sci (1975) 1.21

Multiple peripheral nerve entrapments. An unusual phenotypical variant of the Hunter syndrome (mucopolysaccharidosis II) in a family. Arch Neurol (1974) 1.21

The Kearns-Shy syndrome. A multisystem disease with mitochondrial abnormality demonstrated in skeletal muscle and skin. J Neurol Sci (1973) 1.21

Polyneuropathy and IgM monoclonal gammopathy: studies on the pathogenetic role of anti-myelin-associated glycoprotein antibody. Ann Neurol (1985) 1.20

Neuronal trophic function. A new aspect demonstrated histochemically in developing soleus muscle. Arch Neurol (1967) 1.20

Sweat gland duct cells in Lafora disease: diagnosis by skin biopsy. Neurology (1981) 1.20

Correlative histochemical study of skeletal muscle after suprasegmental denervation, peripheral nerve section, and skeletal fixation. Neurology (1968) 1.20

Experimental ischemic myopathy. J Neurol Sci (1974) 1.19

Gene transfer into skeletal muscles by isogenic myoblasts. Hum Gene Ther (1994) 1.19

Randomized trials of dichlorphenamide in the periodic paralyses. Working Group on Periodic Paralysis. Ann Neurol (2000) 1.17

Hereditary complement (C2) deficiency with dermatomyositis. Am J Med (1975) 1.17

Distal myopathy: electron microscopic and histochemical studies. Neurology (1977) 1.17

Mode switching kinetics produced by a naturally occurring mutation in the cytoplasmic loop of the human acetylcholine receptor epsilon subunit. Neuron (1998) 1.17

Acetazolamide prophylaxis in hypokalemic periodic paralysis. N Engl J Med (1968) 1.16

Megaloblastic anemia secondary to folate deficiency associated with hypothyroidism. Ann Intern Med (1968) 1.16

A comparison of daily and alternate-day prednisone therapy in the treatment of Duchenne muscular dystrophy. Arch Neurol (1991) 1.16

Cardiac conduction in myotonic dystrophy. Am J Med (1975) 1.16

Genetics and physiology of the myotonic muscle disorders. N Engl J Med (1993) 1.16

Multiple mitochondrial DNA deletions in sporadic inclusion body myositis: a study of 56 patients. Ann Neurol (1996) 1.15

Randomized, double-blind, placebo-controlled trial of albuterol in facioscapulohumeral dystrophy. Neurology (2001) 1.15

A Pro504 --> Ser substitution in the beta-subunit of beta-hexosaminidase A inhibits alpha-subunit hydrolysis of GM2 ganglioside, resulting in chronic Sandhoff disease. J Biol Chem (1998) 1.15

End-plate acetylcholine receptor deficiency due to nonsense mutations in the epsilon subunit. Ann Neurol (1996) 1.15

Dystrophin expression in muscles of mdx mice after adenovirus-mediated in vivo gene transfer. Hum Gene Ther (1996) 1.14

Clinical investigation of Duchenne muscular dystrophy. Interesting results in a trial of prednisone. Arch Neurol (1987) 1.14

Prevention of the dystrophic phenotype in dystrophin/utrophin-deficient muscle following adenovirus-mediated transfer of a utrophin minigene. Gene Ther (2000) 1.14

Note on plasma exchange therapy in Refsum's disease. Adv Neurol (1978) 1.13

Experimental core-like lesions and nemaline rods. A correlative morphological and physiological study. Arch Neurol (1972) 1.13

Renal involvement in Refsum's disease. Am J Med (1981) 1.11

Histochemical and contractile properties in the cross-innervated guinea pig soleus muscle. Arch Neurol (1969) 1.10

Episodic movement disorders as channelopathies. Mov Disord (2000) 1.10

Clinical spectrum of mitochondrial DNA mutation at base pair 8344. Lancet (1991) 1.09

Effect of prednisone on protein metabolism in Duchenne dystrophy. Am J Physiol (1995) 1.09

Lectin histochemistry of human skeletal muscle. J Histochem Cytochem (1981) 1.08

Glycogen branching enzyme deficiency in adult polyglucosan body disease. Ann Neurol (1993) 1.07

Facioscapulohumeral dystrophy: a distinct regional myopathy with a novel molecular pathogenesis. FSH Consortium. Ann Neurol (1998) 1.07

Facioscapulohumeral muscular dystrophy (FSHD): design of natural history study and results of baseline testing. FSH-DY Group. Neurology (1994) 1.06

Infantile myotonic dystrophy. Histochemical and electron microscopic features in skeletal muscle. Neurology (1973) 1.06

Gene shifting: a novel therapy for mitochondrial myopathy. Hum Mol Genet (1999) 1.06