This review discusses three monographs: "Myotonic Dystrophy" by P. S. Harper, "Advances in Human Genetics" edited by H. Harris and K. Hirschhorn, and "Inherited Disorders of Carbohydrate Metabolism" edited by D. Burman, J. B. Holton, and C. A. Pennock. 1. **Myotonic Dystrophy by P. S. Harper**: - The monograph is part of the "Major Problems in Neurology" series and provides a comprehensive review of myotonic dystrophy, a complex disease with various symptoms. - Dr. Harper's extensive clinical experience and 170 personally studied cases form the basis of the monograph. - The book includes detailed clinical descriptions, practical considerations, and investigative work on muscle structure, biochemistry, radiology, and cell membrane function. - A notable chapter discusses myotonic dystrophy in infancy and childhood, highlighting the unique features and natural history of this form. - The author's hypothesis about the cause of neonatal myotonic dystrophy being an intrauterine factor affecting only heterozygous fetuses is intriguing but requires verification. - The book also covers genetic aspects, including the challenges in recognizing symptomless heterozygotes and the risks for affected individuals. 2. **Advances in Human Genetics by H. Harris and K. Hirschhorn**: - This annual publication covers various topics in human genetics, including reviews on α-fetoprotein, chromosomes and neoplasia, malformations in man, molecular biology of hemoglobin, and folate metabolism. - The chapter on malformations in man emphasizes the importance of correct terminology and the need to avoid redundant and misleading terms. - The review of α-fetoprotein discusses its physicochemical properties and clinical utility in detecting neoplasia and neural tube defects. - The chapter on folate metabolism highlights defects in folate metabolism as a cause of neurodegenerative diseases. - The relationship between chromosomal anomalies and neoplasia is explored, along with the genetic changes within neoplastic cells. - The expression of human hemoglobin loci is updated, emphasizing the significance of hemoglobin in molecular genetics. 3. **Inherited Disorders of Carbohydrate Metabolism by D. Burman, J. B. Holton, and C. A. Pennock**: - This monograph is a collection of papers from the annual meeting of the Society for the Study of Inborn Errors of Metabolism (SSIEM) in Bristol in 1978. - The contributors include experts from various disciplines, reflecting the interdisciplinary nature of the field. - Professor Hers provides a masterful overview of carbohydrate metabolism control in the liver. - Detailed reviews of specific disorders such as galactosaemia, fructose metabolismThis review discusses three monographs: "Myotonic Dystrophy" by P. S. Harper, "Advances in Human Genetics" edited by H. Harris and K. Hirschhorn, and "Inherited Disorders of Carbohydrate Metabolism" edited by D. Burman, J. B. Holton, and C. A. Pennock. 1. **Myotonic Dystrophy by P. S. Harper**: - The monograph is part of the "Major Problems in Neurology" series and provides a comprehensive review of myotonic dystrophy, a complex disease with various symptoms. - Dr. Harper's extensive clinical experience and 170 personally studied cases form the basis of the monograph. - The book includes detailed clinical descriptions, practical considerations, and investigative work on muscle structure, biochemistry, radiology, and cell membrane function. - A notable chapter discusses myotonic dystrophy in infancy and childhood, highlighting the unique features and natural history of this form. - The author's hypothesis about the cause of neonatal myotonic dystrophy being an intrauterine factor affecting only heterozygous fetuses is intriguing but requires verification. - The book also covers genetic aspects, including the challenges in recognizing symptomless heterozygotes and the risks for affected individuals. 2. **Advances in Human Genetics by H. Harris and K. Hirschhorn**: - This annual publication covers various topics in human genetics, including reviews on α-fetoprotein, chromosomes and neoplasia, malformations in man, molecular biology of hemoglobin, and folate metabolism. - The chapter on malformations in man emphasizes the importance of correct terminology and the need to avoid redundant and misleading terms. - The review of α-fetoprotein discusses its physicochemical properties and clinical utility in detecting neoplasia and neural tube defects. - The chapter on folate metabolism highlights defects in folate metabolism as a cause of neurodegenerative diseases. - The relationship between chromosomal anomalies and neoplasia is explored, along with the genetic changes within neoplastic cells. - The expression of human hemoglobin loci is updated, emphasizing the significance of hemoglobin in molecular genetics. 3. **Inherited Disorders of Carbohydrate Metabolism by D. Burman, J. B. Holton, and C. A. Pennock**: - This monograph is a collection of papers from the annual meeting of the Society for the Study of Inborn Errors of Metabolism (SSIEM) in Bristol in 1978. - The contributors include experts from various disciplines, reflecting the interdisciplinary nature of the field. - Professor Hers provides a masterful overview of carbohydrate metabolism control in the liver. - Detailed reviews of specific disorders such as galactosaemia, fructose metabolism