AI Article Synopsis
- A new type of myopathy was identified in a mother and her daughters from an inbred family, marked by severe muscle weakness and developmental delays at birth.
- The children's condition improved over the first two years, leading to independent walking by 18 months, while the mother showed milder symptoms and normal intelligence at 23 years old.
- Muscle biopsy results indicated structural abnormalities, and genetic tests ruled out several known mutations, suggesting this might be a new benign congenital myopathy likely inherited in an autosomal recessive manner.
Article Abstract
We describe a novel form of myopathy in a mother and her two daughters from an inbred Samaritan family. The patients displayed severe neonatal hypotonia, lethargy and dysmorphic features. Motor milestones were delayed; however, the hypotonia and muscle weakness gradually improved during the first 2 years of life and independent walking was achieved by 18 months. The mother at the age of 23 years shows myopathic facies and minimal proximal weakness. Her intelligence is normal. Her muscle biopsy revealed central nuclei and disruption of the intermyofibrillary network with moth eaten and spiral fibers. Mutations in SMN, MTM1 and the myotonic dystrophy genes were excluded. We suggest this is a new benign form of congenital myopathy. Inheritance is probably autosomal recessive.
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| http://dx.doi.org/10.1016/j.ejpn.2006.06.003 | DOI Listing |
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