Published in
American Academy of Neurology (AAN), Neurology, 14(78), p. 1100-1103
DOI: 10.1212/wnl.0b013e31824e8ebe
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Nemaline myopathy with stiffness and hypertonia associated with an ACTA1 mutation
Journal article published in 2012 by
R. K. Jain,
S. Jayawant,
W. Squier,
F. Muntoni,
Sewry Ca,
C. A. Sewry,
A. Manzur,
R. Quinlivan,
S. Lillis,
H. Jungbluth,
J. C. Sparrow,
Gianina Ravenscroft 
,
Kristen J. Nowak,
M. Memo,
S. B. Marston
and other authors.
,
Kristen J. Nowak,
M. Memo,
S. B. Marston
and other authors.
This paper is available in a repository.
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Abstract
Nemaline myopathy, known to be caused by mutations in 7 genes, including skeletal muscle α-actin (ACTA1),(1) is characterized by muscle weakness, hypotonia, and nemaline rods in muscle biopsy. Here we report a patient with nemaline rods but the opposite phenotype of hypercontractility.