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

EP.05New POLG mutation causing autosomal dominant PEO, proximal and distal myopathy and respiratory failure

2019 ◽  
Vol 29 ◽  
pp. S71-S72
Author(s):  
L. Gonzalez Mera ◽  
L. Carreño-Gago ◽  
A. Pellisé ◽  
I. Paramonov ◽  
E. García-Arumí ◽  
...  
Keyword(s):  
Respiratory Failure ◽  
Autosomal Dominant ◽  
Distal Myopathy ◽  
Polg Mutation

scholarly journals Vocal Cord and Pharyngeal Weakness with Autosomal Dominant Distal Myopathy: Clinical Description and Gene Localization to 5q31

1998 ◽  
Vol 63 (6) ◽  
pp. 1732-1742 ◽  
Author(s):  
Howard Feit ◽  
Alice Silbergleit ◽  
Lori B. Schneider ◽  
Jorge A. Gutierrez ◽  
Reine-Paule Fitoussi ◽  
...  
Keyword(s):  
Vocal Cord ◽  
Autosomal Dominant ◽  
Gene Localization ◽  
Distal Myopathy ◽  
Clinical Description

Infantile autosomal dominant distal myopathy.

2009 ◽  
Vol 92 (2) ◽  
pp. 122-126 ◽  
Author(s):  
C. Scoppetta ◽  
C. Casali ◽  
I. Cesa ◽  
A. Sermoni ◽  
B. Mercuri ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Distal Myopathy

Autosomal dominant late adult onset distal myopathy

1997 ◽  
Vol 7 (6-7) ◽  
pp. 461 ◽  
Author(s):  
I. Penisson-Besnier ◽  
C. Dumez ◽  
D. Chateau ◽  
F. Dubas ◽  
M. Fardeau
Keyword(s):  
Autosomal Dominant ◽  
Distal Myopathy ◽  
Adult Onset

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

Autosomal dominant distal myopathy: further evidence of a chromosome 14 locus

2001 ◽  
Vol 11 (1) ◽  
pp. 11-19 ◽  
Author(s):  
T Voit ◽  
P Kutz ◽  
B Leube ◽  
E Neuen-Jacob ◽  
J.M Schröder ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Distal Myopathy ◽  
Chromosome 14

G.P.36 An autosomal dominant distal myopathy

2012 ◽  
Vol 22 (9-10) ◽  
pp. 819
Author(s):  
J. Hu ◽  
Z. Zhao
Keyword(s):  
Autosomal Dominant ◽  
Distal Myopathy

Subclinical semitendinosus and obturator externus involvement defines an autosomal dominant myopathy with early respiratory failure

2005 ◽  
Vol 15 (9-10) ◽  
pp. 595-600 ◽  
Author(s):  
Daniel Birchall ◽  
Maja von der Hagen ◽  
David Bates ◽  
Kate M.D. Bushby ◽  
Patrick F. Chinnery
Keyword(s):  
Respiratory Failure ◽  
Autosomal Dominant ◽  
Obturator Externus

O7-4 Kelch-like homolog 9 (KLHL9) mutation is associated with an early onset autosomal dominant distal myopathy

2009 ◽  
Vol 13 ◽  
pp. S16
Author(s):  
S. Cirak ◽  
F.V. Deimling ◽  
S. Sachdev ◽  
W.J. Errington ◽  
R. Herrmann ◽  
...  
Keyword(s):  
Early Onset ◽  
Autosomal Dominant ◽  
Distal Myopathy

scholarly journals Kelch-like homologue 9 mutation is associated with an early onset autosomal dominant distal myopathy

Brain ◽  
2010 ◽  
Vol 133 (7) ◽  
pp. 2123-2135 ◽  
Author(s):  
Sebahattin Cirak ◽  
Florian von Deimling ◽  
Shrikesh Sachdev ◽  
Wesley J. Errington ◽  
Ralf Herrmann ◽  
...  
Keyword(s):  
Early Onset ◽  
Autosomal Dominant ◽  
Distal Myopathy
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