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

scholarly journals A Case of Autosomal Dominant Ataxia with Vocal Cord Palsy Attributed to a Mutation in the PRNP Gene

2020 ◽  
Vol 7 (6) ◽  
pp. 688-692 ◽  
Author(s):  
Prashanth L. Kukkle ◽  
Thenral S. Geetha ◽  
Anita Mahadevan ◽  
Vedam L. Ramprasad
Keyword(s):  
Vocal Cord ◽  
Autosomal Dominant ◽  
Prnp Gene ◽  
Vocal Cord Palsy ◽  
Autosomal Dominant Ataxia ◽  
Dominant Ataxia

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

Congenital Hereditary Bilateral Abductor Vocal Cord Paralysis

1982 ◽  
Vol 91 (6) ◽  
pp. 564-566 ◽  
Author(s):  
Kenneth M. Grundfast ◽  
Gregory Milmoe
Keyword(s):  
Vocal Cord ◽  
Autosomal Dominant ◽  
Vocal Cord Paralysis ◽  
Neonatal Period ◽  
Family Members ◽  
The Family ◽  
Swallowing Difficulty

Congenital hereditary bilateral abductor vocal cord paralysis has been found in a father, his son and daughter. Though the disorder was previously believed to be inherited in a sex-linked manner, it now appears that there is an autosomal dominant variant. The vocal cord paralysis was associated with swallowing difficulty during infancy in all three of the family members. Although both the son and daughter required tracheostomies during the neonatal period, both manifested improvement of vocal cord movement during infancy so that decannulation was possible before 14 months of age. Localized delay in neurologic maturation is suspected as the etiology.

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

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

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

Autosomal dominant striatal degeneration (ADSD): Clinical description and mapping to 5q13-5q14

Neurology ◽  
2004 ◽  
Vol 62 (12) ◽  
pp. 2203-2208 ◽  
Author(s):  
G. Kuhlenbaumer ◽  
P. Ludemann ◽  
A. Schirmacher ◽  
E. De Vriendt ◽  
G. Hunermund ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Striatal Degeneration ◽  
Clinical Description

Myotilin is not the Causative Gene for Vocal Cord and Pharyngeal Weakness with Distal Myopathy (VCPDM)

2008 ◽  
Vol 70 (3) ◽  
pp. 414-416 ◽  
Author(s):  
Sean M. Garvey ◽  
Jan Senderek ◽  
Jacques S. Beckmann ◽  
Eric Seboun ◽  
Charles E. Jackson ◽  
...  
Keyword(s):  
Vocal Cord ◽  
Distal Myopathy ◽  
Causative Gene
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