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Central core disease: clinical, pathological, and genetic features.
R M Quinlivan1, C R Muller, M Davis
1Neuromuscular Clinic and Department of Pathology, The Robert Jones and Agnes Hunt District and Orthopaedic NHS Trust, Oswestry, Shropshire SY10 7AG, UK. Rcmq37@aol.com
Archives of Disease in Childhood
|December 13, 2003
Summary
Central core disease (CCD), a congenital myopathy linked to RYR1 gene mutations, presents with varied symptoms and potential malignant hyperthermia risk. DNA analysis offers improved diagnosis for affected families.
Area of Science:
- Genetics
- Neurology
- Molecular Biology
Background:
- Central core disease (CCD) is a dominantly inherited congenital myopathy.
- It is allelic to malignant hyperthermia (MH) and caused by RYR1 gene mutations.
- RYR1 mutations are located on chromosome 19q13.1.
Observation:
- This study describes eleven individuals with RYR1 mutations.
- Four index cases presented with congenital myopathy symptoms like hypotonia and skeletal abnormalities.
- Clinical presentation ranged from asymptomatic to severe disability.
Findings:
- Novel RYR1 gene mutations were identified in all affected individuals.
- Missense mutations were consistently found in exons 101, 102, and 103.
- Muscle biopsy findings varied, with some cases lacking typical central cores.
Implications:
- DNA analysis provides a more accurate and less invasive diagnostic method for CCD and related conditions.
- Awareness among clinicians, particularly pediatricians and orthopedic surgeons, is crucial due to the MH risk.
- Understanding RYR1 mutations advances the diagnosis and management of congenital myopathies.