Centronuclear myopathy heterogeneity: distinction of clinical types by myosin isoform patterns
| Autor: | M. G. Norman, Judith A. Sawchak, Saiyid A. Shafiq, Joanna H. Sher, R. W. Kula |
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| Rok vydání: | 1991 |
| Předmět: |
Gene isoform
Adult Male Pathology medicine.medical_specialty X Chromosome medicine.drug_class Genetic Linkage Biopsy Immunocytochemistry Genes Recessive Biology Myosins Major histocompatibility complex Monoclonal antibody Muscular Diseases Myosin medicine Humans Centronuclear myopathy Postnatal human Histocytochemistry Muscles Infant Newborn Antibodies Monoclonal Infant medicine.disease Immunohistochemistry Pathophysiology biology.protein Female Neurology (clinical) |
| Zdroj: | Neurology. 41(1) |
| ISSN: | 0028-3878 |
| Popis: | We studied muscles from 3 patients with centronuclear myopathy (CNM) by immunocytochemistry using myosin heavy chain (MHC)-specific monoclonal antibodies to determine whether subtypes of CNM express prenatal MHC and to assess if there is an arrest in development of these muscles. Muscle from a woman with childhood-onset CNM did not express prenatal MHC, yet this prenatal MHC was strongly expressed in the muscle fibers of 2 brothers with X-linked CNM. This finding represents the 1st immunocytochemical evidence of the expression of a prenatal myosin isoform in nonregenerating postnatal human muscle and suggests that the X-linked form of CNM differs from the other types because of a true arrest in maturation of the muscle. |
| Databáze: | OpenAIRE |
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