Autosomal dominant nemaline myopathy: A new phenotype unlinked to previously known genetic loci
| Autor: | J.A. Lobrinus, Thierry Kuntzer, L. Mittaz, Murielle Dunand, Luisa Bonafé, Pierre-Yves Jeannet |
|---|---|
| Rok vydání: | 2007 |
| Předmět: |
Male
Weakness medicine.medical_specialty Locus (genetics) Myopathies Nemaline Nebulin Nemaline myopathy Internal medicine medicine Humans Muscle Skeletal Myopathy Genetics (clinical) Family Health Muscle Weakness biology business.industry Muscle weakness Anatomy musculoskeletal system medicine.disease Congenital myopathy Hypotonia Pedigree Phenotype Endocrinology Neurology Pediatrics Perinatology and Child Health biology.protein Female Neurology (clinical) medicine.symptom business |
| Zdroj: | Neuromuscular Disorders. 17:6-12 |
| ISSN: | 0960-8966 |
| DOI: | 10.1016/j.nmd.2006.10.005 |
| Popis: | We report a large family with a mild form of autosomal dominant nemaline myopathy and a new phenotype. Onset of symptoms was in infancy with hypotonia and motor delay. Weakness involved neck flexors, abdominal and proximal limb muscles. There was no bulbar, respiratory or foot dorsiflexion weakness and no slowness in movement. Patients had remarkably good physical endurance and no limitation in daily activities, but were slow runners since childhood. Nemaline rods were seen in less than 5% of muscle fibres. No linkage to the five known nemaline myopathy genes (alpha-tropomyosin-3, nebulin, alpha-actin, troponin T1 and beta-tropomyosin), to the ryanodine receptor gene (associated with core-rod myopathy) or to the 15q21-23 locus was found. |
| Databáze: | OpenAIRE |
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