Familial cardiomyopathy and distal myopathy with abnormal desmin accumulation and migration
JA Lobrinus, RC Janzer, T Kuntzer, JM Matthieu… - Neuromuscular …, 1998 - Elsevier
Desminopathies form a heterogeneous group of myopathies characterised by pathological
aggregations of desmin. We report a family, where mother and daughter presented with an
atrioventricular block and a slowly progressive distal muscular weakness, with non-
homogeneous focal atrophy on computed tomography scans. The mother developed a
severe global heart insufficiency necessitating a heart transplantation at 56 years of age.
Skeletal muscle biopsies were characterised by inclusion bodies strongly expressing …
aggregations of desmin. We report a family, where mother and daughter presented with an
atrioventricular block and a slowly progressive distal muscular weakness, with non-
homogeneous focal atrophy on computed tomography scans. The mother developed a
severe global heart insufficiency necessitating a heart transplantation at 56 years of age.
Skeletal muscle biopsies were characterised by inclusion bodies strongly expressing …