Nemaline myopathy: a report of two siblings as evidence of autosomal recessive inheritance of the infantile type
| Autor: | I. Reef, M. G. Duffield, J. D. Cartwright, D. J. Castle |
|---|---|
| Rok vydání: | 1990 |
| Předmět: |
Male
Pathology medicine.medical_specialty Muscle biopsy medicine.diagnostic_test Autosomal recessive inheritance business.industry Muscles Infant Newborn Genes Recessive General Medicine medicine.disease Infant newborn Nemaline myopathy Muscular Diseases Biopsy medicine Humans Female medicine.symptom business Myopathy Research Article |
| Zdroj: | Postgraduate Medical Journal. 66:962-964 |
| ISSN: | 1469-0756 0032-5473 |
| DOI: | 10.1136/pgmj.66.781.962 |
| Popis: | Summary We report two opposite-sex siblings with the severe infantile form of nemaline myopathy; diagnoses were made on muscle biopsy. Neither parent showed clinical or electromyographic evidence of myopathy, and both had negative muscle biopsies. Autosomal recessive inheritance seems likely. |
| Databáze: | OpenAIRE |
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