Familial cardiomyopathy and distal myopathy with abnormal desmin accumulation and migration
- 1 April 1998
- journal article
- case report
- Published by Elsevier in Neuromuscular Disorders
- Vol. 8 (2) , 77-86
- https://doi.org/10.1016/s0960-8966(98)00005-4
Abstract
No abstract availableKeywords
This publication has 30 references indexed in Scilit:
- Familial desmin-related myopathies and cardiomyopathies — from myopathology to molecular and clinical geneticsNeuromuscular Disorders, 1996
- Human desmin gene: cDNA sequence, regional localization and exclusion of the locus in a familial desmin-related myopathyHuman Genetics, 1996
- Desmin‐related neuromuscular disordersMuscle & Nerve, 1995
- Alpha-actinin in nemaline bodies in congenital nemaline myopathy: immunological confirmation by light and electron microscopyNeuromuscular Disorders, 1995
- Autosomal dominant distal myopathy with desmin storage: A clinicopathologic and electrophysiologic study of a large kinshipMuscle & Nerve, 1994
- Familial desminopathy: myopathy with accumulation of desmin-type intermediate filaments.Journal of Neurology, Neurosurgery & Psychiatry, 1993
- Purification and Partial Structural and Functional Characterization of Mouse Myelin/Oligodendrocyte GlycoproteinJournal of Neurochemistry, 1992
- Storage of phosphorylated desmin in a familial myopathyFEBS Letters, 1988
- Subsarcolemmal Vermiform Deposits in Skeletal Muscle, Associated with Familial Cardiomyopathy: Report of Two Cases of a New EntityPediatric Neurosurgery, 1986
- Autosomal dominant “spheroid body myopathy”Muscle & Nerve, 1978