Cardio-Skeletal Muscle Disease Associated With Syndromes

Z. Khuchua, Jeffrey Towbin

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

Cardiomyopathies develop in some genetic syndromes and chromosomal disorders. These patients may have defects encoding genes causing inborn errors of metabolism, nuclear genes, structural genes, or transcription factors. Inborn errors of metabolism affecting mitochondrial energy-producing pathways result in metabolic disorders with an extraordinarily variable phenotype. Mitochondrial diseases can be caused by mutations in any of the more than 1000 mitochondrial and nuclear genes. Mitochondrial-nuclear genome interactions may also contribute to the pathological mechanisms of disease. Environmental and physiological stress exacerbates pathology, adding another layer of complexity to the diagnosis and the therapeutic interventions performed. These disorders typically demonstrate abnormalities of skeletal and cardiac muscle, as well as the central nervous system. Other defects, including those caused by chromosomal abnormalities, may also result in multisystem disorders that include the heart and skeletal muscle. These disorders are described in this chapter.

Original languageEnglish (US)
Title of host publicationCardioskeletal Myopathies in Children and Young Adults
PublisherElsevier Inc.
Pages307-329
Number of pages23
ISBN (Print)9780128000403
DOIs
StatePublished - Jan 1 2017

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Inborn Errors Metabolism
Skeletal Muscle
Myocardium
Chromosome Disorders
Genes
Mitochondrial Diseases
Inborn Genetic Diseases
Physiological Stress
Mitochondrial Genome
Mitochondrial Genes
Cardiomyopathies
Chromosome Aberrations
Transcription Factors
Central Nervous System
Pathology
Phenotype
Mutation
Therapeutics

All Science Journal Classification (ASJC) codes

  • Medicine(all)

Cite this

Khuchua, Z., & Towbin, J. (2017). Cardio-Skeletal Muscle Disease Associated With Syndromes. In Cardioskeletal Myopathies in Children and Young Adults (pp. 307-329). Elsevier Inc.. https://doi.org/10.1016/B978-0-12-800040-3.00015-7

Cardio-Skeletal Muscle Disease Associated With Syndromes. / Khuchua, Z.; Towbin, Jeffrey.

Cardioskeletal Myopathies in Children and Young Adults. Elsevier Inc., 2017. p. 307-329.

Research output: Chapter in Book/Report/Conference proceedingChapter

Khuchua, Z & Towbin, J 2017, Cardio-Skeletal Muscle Disease Associated With Syndromes. in Cardioskeletal Myopathies in Children and Young Adults. Elsevier Inc., pp. 307-329. https://doi.org/10.1016/B978-0-12-800040-3.00015-7
Khuchua Z, Towbin J. Cardio-Skeletal Muscle Disease Associated With Syndromes. In Cardioskeletal Myopathies in Children and Young Adults. Elsevier Inc. 2017. p. 307-329 https://doi.org/10.1016/B978-0-12-800040-3.00015-7
Khuchua, Z. ; Towbin, Jeffrey. / Cardio-Skeletal Muscle Disease Associated With Syndromes. Cardioskeletal Myopathies in Children and Young Adults. Elsevier Inc., 2017. pp. 307-329
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