Article
[Congenital and other myopathies].
Der Pathologe - 1 Sept 2009
Goebel H H, Müller H D, Schröder R
Abstract excerpt
The myopathies presented here fall into two groups: Congenital myopathies and protein aggregate myopathies. These genetic conditions often require all modern diagnostic investigations, including histology, enzyme histochemistry, immunohistochemistry and electron microscopy to pave the way to an adequate individual molecular analysis and diagnosis. This is necessary to provide the patient and his or her family...
Topics
- Biopsy
- Child
- DNA Mutational Analysis
- Diagnosis, Differential
- Genetic Loci
- Genotype
- Humans
- Immunohistochemistry
- Inclusion Bodies
- Microscopy, Electron
- Muscle Proteins
- Muscle Weakness
- Muscle, Skeletal
- Muscular Atrophy
- Muscular Diseases
- Myofibrils
- Phenotype