TY - JOUR
T1 - Novel slow-skeletal myosin (MYH7) mutation in the original myosin storage myopathy kindred
AU - Dye, D.E.
AU - Azzarelli, B.
AU - Goebel, H.H.
AU - Laing, Nigel
PY - 2006
Y1 - 2006
N2 - Myosin storage myopathy (OMIM 608358), a congenital myopathy characterised by subsarcolemmal, hyaline-like accumulations of myosin in Type I muscle fibres, was first described by Cancilla and Colleagues in 1971 [Neurology 1971;21:579-585] in two siblings as 'familial myopathy with probable lysis of myofibrils in type I muscle fibres'. Two mutations in the slow skeletal myosin heavy chain gene (MYH7) have recently been associated with the disease in other families. We have identified a novel heterozygous Leu1793Pro mutation in MYH7 in DNA from paraffin sections of one of the original siblings. This historical molecular analysis confirms the original cases had myosin storage myopathy. (C) 2006 Elsevier B.V. All rights reserved.
AB - Myosin storage myopathy (OMIM 608358), a congenital myopathy characterised by subsarcolemmal, hyaline-like accumulations of myosin in Type I muscle fibres, was first described by Cancilla and Colleagues in 1971 [Neurology 1971;21:579-585] in two siblings as 'familial myopathy with probable lysis of myofibrils in type I muscle fibres'. Two mutations in the slow skeletal myosin heavy chain gene (MYH7) have recently been associated with the disease in other families. We have identified a novel heterozygous Leu1793Pro mutation in MYH7 in DNA from paraffin sections of one of the original siblings. This historical molecular analysis confirms the original cases had myosin storage myopathy. (C) 2006 Elsevier B.V. All rights reserved.
U2 - 10.1016/j.nmd.2006.03.011
DO - 10.1016/j.nmd.2006.03.011
M3 - Article
VL - 16
SP - 357
EP - 360
JO - Neuromuscular Disorders
JF - Neuromuscular Disorders
SN - 0960-8966
IS - 6
ER -