Download Muscle Disease: Pathology and Genetics, Second edition by Hans H Goebel, Caroline Sewry, Roy Weller(eds.) PDF
By Hans H Goebel, Caroline Sewry, Roy Weller(eds.)
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Extra resources for Muscle Disease: Pathology and Genetics, Second edition
Sample text
Involvement of other tissues The skin can be involved in some neuromuscular disorders. In Ullrich CMD, follicular hyperkeratosis and abnormal scar formation are almost invariable, while a characteristic rash occurs in dermatomyositis. Ichthyosis is often a feature in cases with mutations in the phosphotidylcholine kinase gene (CHKB). Blistering is a characteristic feature in cases with epidermolysis bullosa simplex caused by mutations in the gene encoding plectin (PLEC) and this condition may be associated with muscular dystrophy.
CNV, copy number variant; NGS, next-generation sequencing; SNP, single nucleotide polymorphism. g. 2 Disease gene research pathways for patients with a novel muscle disease. 42 Analyse any other identified variants in turn by priority CNV variant identified Genetics of Muscle Disease Chapter 4 amount of DNA to be sequenced, and just as importantly analyzed, more manageable, but it is estimated to contain 85% of all disease-causing mutations [23]. Whole-genome sequencing renders every base in the genome that can be sequenced by NGS a candidate, while exome sequencing renders every captured gene a candidate gene for the disease being researched.
Lesions in the basal ganglia and cerebellum are often found in specific types of mitochondrial myopathies. In laminin α2 (merosin)-deficient CMD, there is white matter involvement visible on T2 brain magnetic resonance imaging (MRI) by 6 months of age but these patients have normal intelligence. 9). A proportion of the patients with a valosin-containing protein (VCP) mutation develop dementia in addition to muscle weakness. Involvement of other tissues The skin can be involved in some neuromuscular disorders.