Article
'Cap myopathy': case report of a family.
Neuromuscular disorders : NMD - 1 Apr 2006
Cuisset J M, Maurage C A, Pellissier J F, Barois A, Urtizberea J A, Laing N, Tajsharghi H, Vallée L
Abstract excerpt
We report the observation of an 18-year-old girl, whose clinical presentation was very suggestive of a congenital myopathy with neonatal onset. A congenital myopathy had been already diagnosed in her brother and in addition her half-cousin died diagnosed with a severe nemaline myopathy at age 4 years. A muscle biopsy performed on both siblings revealed histological and ultrastructural features of 'cap myopathy'....
Topics
- Actins
- Adolescent
- Adult
- Biopsy
- Child, Preschool
- Female
- Humans
- Male
- Muscles
- Muscular Diseases
- Mutation
- Myopathies, Nemaline