TY - JOUR
T1 - Myosin storage (hyaline body) myopathy: A case report
AU - Shingde, M.V.
AU - Spring, P.J.
AU - Maxwell, A.
AU - Wills, E.J.
AU - Harper, C.G.
AU - Dye, D.E.
AU - Laing, Nigel
AU - North, K.N.
PY - 2006
Y1 - 2006
N2 - 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 I muscle fibres and predominantly proximal muscle weakness. Recently, a single mutation (Arg1845Trp) in the slow/beta-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 mutation and similar histological findings. Here, we report the clinical and morphological findings of two brothers of English/Scottish background with the Arg1845Trp mutation in MYH7. This case report adds to the clinical description of this rare disorder and confirms that Arg1845Trp is a common mutation associated with this phenotype, at least in the White European population. (C) 2006 Published by Elsevier B.V.
AB - 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 I muscle fibres and predominantly proximal muscle weakness. Recently, a single mutation (Arg1845Trp) in the slow/beta-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 mutation and similar histological findings. Here, we report the clinical and morphological findings of two brothers of English/Scottish background with the Arg1845Trp mutation in MYH7. This case report adds to the clinical description of this rare disorder and confirms that Arg1845Trp is a common mutation associated with this phenotype, at least in the White European population. (C) 2006 Published by Elsevier B.V.
U2 - 10.1016/j.nmd.2006.09.001
DO - 10.1016/j.nmd.2006.09.001
M3 - Article
C2 - 17118657
VL - 16
SP - 882
EP - 886
JO - Neuromuscular Disorders
JF - Neuromuscular Disorders
SN - 0960-8966
IS - 12
ER -