Clinical and genetic heterogeneity in nemaline myopathy – a disease of skeletal muscle thin filaments
- 1 August 2001
- journal article
- review article
- Published by Elsevier in Trends in Molecular Medicine
- Vol. 7 (8), 362-368
- https://doi.org/10.1016/s1471-4914(01)02089-5
Abstract
No abstract availableKeywords
This publication has 38 references indexed in Scilit:
- Nemaline myopathy: A clinical study of 143 casesAnnals of Neurology, 2001
- A Novel Nemaline Myopathy in the Amish Caused by a Mutation in Troponin T1American Journal of Human Genetics, 2000
- Report of the 70th ENMC International Workshop: Nemaline myopathy, 11–13 June 1999, Naarden, The NetherlandsNeuromuscular Disorders, 2000
- Clinical and genetic heterogeneity in autosomal recessive nemaline myopathyNeuromuscular Disorders, 1999
- Mutations in the skeletal muscle α-actin gene in patients with actin myopathy and nemaline myopathyNature Genetics, 1999
- Nemaline myopathy: current concepts. The ENMC International Consortium and Nemaline Myopathy.Journal of Medical Genetics, 1997
- Fetal Akinesia Sequence Caused by Nemaline MyopathyNeuropediatrics, 1997
- Nemaline myopathy: Comparative muscle histochemistry in the severe neonatal, moderate congenital, and adult-onset formsPediatric Neurology, 1989
- Nemaline Myopathy Appearing in Adults as CardiomyopathyArchives of Neurology, 1984
- NEMALINE MYOPATHYBrain, 1963