Neuromuscular Disorders: Clinical and Molecular Genetics
A comprehensive and detailed overview of the current understanding of the molecular pathology of neuromuscular disorders. For each of 20 disorders, the leading international authorities in the field review: Clinical Features, Pathology, Inheritance, Molecular Genetics, Screening, Prenatal Diagnosis, Prevention and Counseling, Possible treatment by Drug or Gene Therapy.
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Intragenic and Intergenic Heterogeneity
EmeryDreifuss Muscular Dystrophy
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abnormalities affected allele analysis antibodies associated autosomal dominant autosomal recessive brain calcium cardiac cardiomyopathy cells chloride channel chromosome Clin clinical features congenital muscular dystrophy CTG repeat cytoplasmic bodies deficiency deletion desmin desminopathies detected distal myopathy DM-PK Dubowitz Duchenne muscular dystrophy dystro EDMD Emery encoding Engel ENMC exon expression families Fardeau FCMD fibrodysplasia ossificans progressiva Figure filaments FSHD Genomics Goebel human inheritance involvement kinase laminin laminin a2 chain Lehmann-Horn lesions limb linkage locus malignant hyperthermia membrane merosin merosin-deficient mitochondrial molecular genetic mouse mRNA mtDNA muscle biopsy muscle fibres Muscle Nerve muscle weakness mutations myotonic dystrophy myotubular myopathy nemaline myopathy Neurol Neurology Neuromusc Neuromuscular Disorders normal oculopharyngeal muscular dystrophy onset OPMD pathological periodic paralysis phenotype prenatal diagnosis progressive protein proximal receptor region reported severe skeletal muscle sodium channel spinal muscular atrophy studies subunit symptoms syndrome tion tissue Tomé transcript Wallgren-Pettersson X-linked