Myosin storage (hyaline body) myopathy: a case report
MV Shingde, PJ Spring, A Maxwell, EJ Wills… - Neuromuscular …, 2006 - Elsevier
Myosin storage myopathy/hyaline body myopathy is a rare congenital myopathy, with less
than 30 cases reported in the literature. It is characterised by the presence of
subsarcolemmal hyaline bodies in type 1 muscle fibres and predominantly proximal muscle
weakness. Recently, a single mutation (Arg1845Trp) in the slow/β-cardiac myosin heavy
chain gene (MYH7) was identified in four unrelated probands from Sweden and Belgium.
The clinical severity and age of onset was variable, despite the same disease-causing …
than 30 cases reported in the literature. It is characterised by the presence of
subsarcolemmal hyaline bodies in type 1 muscle fibres and predominantly proximal muscle
weakness. Recently, a single mutation (Arg1845Trp) in the slow/β-cardiac myosin heavy
chain gene (MYH7) was identified in four unrelated probands from Sweden and Belgium.
The clinical severity and age of onset was variable, despite the same disease-causing …