[CITATION][C] Phenotypic variability in two brothers with sarcotubular myopathy
W Müller-Felber, B Schlotter, M Töpfer, UP Ketelsen… - Journal of …, 1999 - Springer
W Müller-Felber, B Schlotter, M Töpfer, UP Ketelsen, J Müller-Höcker, D Pongratz
Journal of neurology, 1999•SpringerSirs: Sarcotubular myopathy is a congenital myopathy characterized by vacuolar changes in
myofibers on light microscopy; electron microscopy shows dilated and coalesced
sarcotubular systems. The disorder was first described by Jerusalem et al.[2] in two brothers
aged 11 and 15 years, who showed similar clinical signs caused by a congenital,
nonprogressive myopathy. We report on two brothers who presented with histological
findings characteristic for a sarcotubular myopathy, but with a different clinical course.
myofibers on light microscopy; electron microscopy shows dilated and coalesced
sarcotubular systems. The disorder was first described by Jerusalem et al.[2] in two brothers
aged 11 and 15 years, who showed similar clinical signs caused by a congenital,
nonprogressive myopathy. We report on two brothers who presented with histological
findings characteristic for a sarcotubular myopathy, but with a different clinical course.
Sirs: Sarcotubular myopathy is a congenital myopathy characterized by vacuolar changes in myofibers on light microscopy; electron microscopy shows dilated and coalesced sarcotubular systems. The disorder was first described by Jerusalem et al.[2] in two brothers aged 11 and 15 years, who showed similar clinical signs caused by a congenital, nonprogressive myopathy. We report on two brothers who presented with histological findings characteristic for a sarcotubular myopathy, but with a different clinical course.
Springer