Autosomal dominant nemaline myopathy: A new phenotype unlinked to previously known genetic loci

2007 ◽  
Vol 17 (1) ◽  
pp. 6-12 ◽  
Author(s):  
P.Y. Jeannet ◽  
L. Mittaz ◽  
M. Dunand ◽  
J.A. Lobrinus ◽  
L. Bonafe ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Nemaline Myopathy ◽  
Genetic Loci

P.9.6 Combined cap disease and nemaline myopathy in the same patient caused by an autosomal dominant mutation in the TPM3 gene

2013 ◽  
Vol 23 (9-10) ◽  
pp. 785
Author(s):  
E. Malfatti ◽  
U. Schaeffer ◽  
F. Chapon ◽  
Y. Yang ◽  
B. Eymard ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Nemaline Myopathy ◽  
Dominant Mutation

Combined cap disease and nemaline myopathy in the same patient caused by an autosomal dominant mutation in the TPM3 gene

2013 ◽  
Vol 23 (12) ◽  
pp. 992-997 ◽  
Author(s):  
Edoardo Malfatti ◽  
Ursula Schaeffer ◽  
Françoise Chapon ◽  
Yage Yang ◽  
Bruno Eymard ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Nemaline Myopathy ◽  
Dominant Mutation

A novel autosomal dominant distal myopathy with early respiratory failure: Clinico-pathologic characteristics and exclusion of linkage to candidate genetic loci

2001 ◽  
Vol 49 (4) ◽  
pp. 443-452 ◽  
Author(s):  
Patrick F. Chinnery ◽  
Margaret A. Johnson ◽  
Timothy J. Walls ◽  
G. John Gibson ◽  
Peter R. W. Fawcett ◽  
...  
Keyword(s):  
Respiratory Failure ◽  
Autosomal Dominant ◽  
Distal Myopathy ◽  
Genetic Loci

A mutation in the α tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy

1995 ◽  
Vol 9 (1) ◽  
pp. 75-79 ◽  
Author(s):  
Nigel G. Laing ◽  
Stephen D. Wilton ◽  
Patrick A. Akkari ◽  
Shellie Dorosz ◽  
Karyn Boundy ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Nemaline Myopathy

Autosomal dominant nemaline myopathy with intranuclear rods due to mutation of the skeletal muscle ACTA1 gene: Clinical and pathological variability within a kindred

2006 ◽  
Vol 16 (2) ◽  
pp. 113-121 ◽  
Author(s):  
David O. Hutchinson ◽  
Amanda Charlton ◽  
Nigel G. Laing ◽  
Biljana Ilkovski ◽  
Kathryn N. North
Keyword(s):  
Skeletal Muscle ◽  
Autosomal Dominant ◽  
Nemaline Myopathy

G.P.8 04 TPM3 (Arg167His) autosomal dominant nemaline myopathy: variable clinical and histopathological phenotypes

2006 ◽  
Vol 16 (9-10) ◽  
pp. 707-708
Author(s):  
I. Pénisson-Besnier ◽  
N. Monnier ◽  
A. Toutain ◽  
P. Corcia ◽  
N. Laing
Keyword(s):  
Autosomal Dominant ◽  
Nemaline Myopathy

Autosomal dominant nemaline myopathy caused by a novel α-tropomyosin 3 mutation

2009 ◽  
Vol 257 (4) ◽  
pp. 658-660 ◽  
Author(s):  
I. C. Kiphuth ◽  
S. Krause ◽  
H. B. Huttner ◽  
G. Dekomien ◽  
T. Struffert ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Nemaline Myopathy

Mapping of two genetic loci for autosomal dominant hidradenitis suppurativa

2008 ◽  
Vol 15 (6) ◽  
pp. 479-479 ◽  
Author(s):  
W. H. Irwin McLean ◽  
Pam Wood ◽  
Alan D. Irvine ◽  
Jan Von Der Werth
Keyword(s):  
Hidradenitis Suppurativa ◽  
Autosomal Dominant ◽  
Genetic Loci
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