X-linked scapuloperoneal syndrome
| Autor: | C. F. Elliott, P. K. Thomas, D. B. Calne |
|---|---|
| Rok vydání: | 1972 |
| Předmět: |
Adult
Male Clubfoot Pes cavus Pathology medicine.medical_specialty Contracture Adolescent Cardiomyopathy Color Vision Defects Genes Recessive Electromyography Biology Cardiovascular System Muscular Diseases medicine Humans Child Wasting Sex Chromosome Aberrations Muscle contracture Leg Staining and Labeling medicine.diagnostic_test Articles Anatomy Middle Aged medicine.disease Pedigree body regions Psychiatry and Mental health Arm Female Surgery X-Linked Scapuloperoneal Syndrome Neurology (clinical) medicine.symptom |
| Zdroj: | Journal of Neurology, Neurosurgery & Psychiatry. 35:208-215 |
| ISSN: | 0022-3050 |
| DOI: | 10.1136/jnnp.35.2.208 |
| Popis: | Observations are presented on a family with muscular weakness and wasting with an onset in childhood, predominantly affecting the proximal muscles in the upper limbs and the distal muscles in the lower. This was accompanied by contractures of the elbows and by pes cavus. Pseudohypertrophy was absent. Progression was slow, but an associated cardiomyopathy developed in adult life. Investigations favoured a myopathic basis. The inheritance was of X-linked recessive pattern and the disorder was linked with deutan colour blindness. The clinical features in this family appear to be distinctive and it is likely that the disorder represents a separate clinical entity. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|