The myotubular myopathies: differential diagnosis of the X linked recessive, autosomal dominant, and autosomal recessive forms and present state of DNA studies.

Author:

Wallgren-Pettersson C,Clarke A,Samson F,Fardeau M,Dubowitz V,Moser H,Grimm T,Barohn R J,Barth P G

Publisher

BMJ

Subject

Genetics(clinical),Genetics

Reference37 articles.

1. Congenital myopathies. In: Mastaglia FL, Lord Walton of Detchant, eds. Skeletal muscle pathology;Fardeau, M.,1992

2. Type 1 fibre hypotrophy and central nuclei. A rare congenital muscle abnormality with a possible experimental model;Engel, W.K.; Gold, G.N.; Karpati, G.;Arch Neurol,1968

3. Vimentin and desmin in maturing skeletal muscle and developmental myopathies;Sarnat, H.B.;Neurology,1992

4. Expression of cell surface and cytoskeleton developmentally regulated proteins in adult centronuclear myopathies;Figarella-Branger, D.; Calore, E.E.; Boucraut, J.; Bianco, N.; Rougon, G.; Pellissier, J.F.;7 Neurol Sci,1992

5. Abnormal distribution of desmin and vimentin in myofibres in adult onset myotubular myopathy;Misra, A.K.; Menon, N.K.; Mishra, S.K.;Muscle Nerve,1992

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