Болезни мышц: литература
Britton CH et al: Human liver mitochondrial carnitine palmitoyltransferase I: Characterization of its cDNA and chromosomal localization and partial analysis of the gene. Proc Natl Acad Sci USA 92:1984, 1995
Campbell KP: Adhalin gene mutations and autosomal recessive limbgirdle muscular dystrophy. Ann Neurol 38:353, 1995
Cannon SC: Ion-channel defects and aberrant excitability in myotonia and periodic paralysis. Trends Neurosci 19:3, 1996
Dimauro S: Mitochondrial encephalomyopathies, in The Molecular and Genetic Basis of Neurologic Disease, RN Rosenberg et al. (eds). Boston, Butterworth-Heinemann, 1993
Dubowitz V: The congenital myopathies, in Muscle Disorders, 2d ed., V Dubowitz (ed.). London, Saunders, 1995
Elbaz A et al: Hypokalemic periodic paralysis and the dihydropyridine receptor (CACNL1A3): Genotype/phenotype correlations for two predominant mutations and evidence for the absence of a founder effect in 16 Caucasian families. Am J Hum Genet 56:374, 1995
Griggs RC et al: The muscular dystrophies, in Evaluation and Treatment of Myopathies, RC Griggs et al. (eds). Philadelphia, FA Davis, 1995
Helbling-Leclerc A et al: Mutations in the laminin alpha2-chain gene (LAMA2) cause merosin deficient congenital muscular dystrophy. Nat Genet 11:216, 1995
Kissel JT et al: Endocrine myopathies, in Handbook of Clinical Neurology, vol 19, LP Rowland, S DiMauro (eds). New York, Elsevier, 1992
Mendell JR et al: The childhood muscular dystrophies: Diseases sharing a common pathogenesis of membrane instability. J Child Neurol 10:150, 1995
Prior TW et al: Spectrum of small mutations in the dystrophin coding region. Am J Hum Genet 57:22, 1995
Ptacek LJ et al: Sodium channel mutations in acetazolamide-responsive myotonia congenita, paramyotonia congenita and hyperkalemic periodic paralysis. Neurology 44:1500, 1994
Quane KA et al: Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia. Nat Genet 5:51, 1993
Tawil R et al: Andersen's syndrome: Potassium-sensitive periodic paralysis, ventricular ectopy and dysmorphic features. Ann Neurol 35:326, 1994
Varderio E et al: Carnitine palmitoyltransferase II deficiency: Structure of the gene and characterization of two novel disease-causing mutations. Hum Mol Genet 4:19, 1995
