Neuromuscular Disorders: Clinical and Molecular GeneticsAlan E. H. Emery 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. |
Contents
Hereditary Neuropathies | 2 |
EmeryDreifuss Muscular Dystrophy | 12 |
1 | 23 |
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abnormalities affected allele analysis antibodies associated autosomal dominant autosomal recessive axonal brain calcium cardiac cardiomyopathy cause cell 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 Emery-Dreifuss muscular dystrophy encoding Engel ENMC exon expression families Fardeau fibrodysplasia ossificans progressiva Figure filaments FSHD Genomics Goebel human inheritance involvement kinase laminin laminin a2 Lehmann-Horn lesions limb linkage locus malignant hyperthermia membrane merosin mitochondrial molecular genetic mouse mRNA mtDNA muscle biopsy muscle fibres Muscle Nerve muscle weakness mutations myotonic dystrophy myotubular myopathy nemaline myopathy neurofilament Neurol Neurology Neuromusc Neuromuscular Disorders neuropathy normal oculopharyngeal muscular dystrophy onset OPMD pathology periodic paralysis phenotype progressive protein proximal receptor region reported severe skeletal muscle SOD1 sodium channel spinal muscular atrophy studies subunit symptoms syndrome tion tissue Tomé transcript Wallgren-Pettersson X-linked