scholarly journals A novel frameshift ACTN2 variant causes a rare adult‐onset distal myopathy with multi‐minicores

2021 ◽  
Author(s):  
Lei Chen ◽  
Dian‐Fu Chen ◽  
Hai‐Lin Dong ◽  
Gong‐Lu Liu ◽  
Zhi‐Ying Wu
Keyword(s):  
Distal Myopathy ◽  
Adult Onset

Nemaline Myopathy Presenting as Adult-onset Distal Myopathy

2016 ◽  
Vol 18 (1) ◽  
pp. 31
Author(s):  
Kee Hong Park ◽  
Sung-Yeon Sohn ◽  
Je-Young Shin ◽  
Jun-Soon Kim ◽  
Sung-Hye Park ◽  
...  
Keyword(s):  
Nemaline Myopathy ◽  
Distal Myopathy ◽  
Adult Onset

1-33-08 Sporadic adult onset distal myopathy: Unusual presentation

1997 ◽  
Vol 150 ◽  
pp. S52
Author(s):  
J. Wong ◽  
K.P. Lin ◽  
K.Y. Lee ◽  
K.L. Chen
Keyword(s):  
Unusual Presentation ◽  
Distal Myopathy ◽  
Adult Onset

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

scholarly journals Sporadic adult onset distal myopathy.

1988 ◽  
Vol 51 (3) ◽  
pp. 468-469
Author(s):  
G Cavaletti ◽  
G Bogliun ◽  
P Apale ◽  
G Iredici ◽  
M Moggio
Keyword(s):  
Distal Myopathy ◽  
Adult Onset

Sporadic adult-onset distal myopathy with rimmed vacuoles, 15–18 nm tubulofilaments and extensive rod formation

1997 ◽  
Vol 146 (1) ◽  
pp. 81-84 ◽  
Author(s):  
Jörn P Sieb ◽  
Joachim VonOertzen ◽  
Karen Tolksdorf ◽  
Petra Dörfler ◽  
Karin Kappes-Horn ◽  
...  
Keyword(s):  
Distal Myopathy ◽  
Adult Onset ◽  
Rimmed Vacuoles

HSPB8 haploinsufficiency causes dominant adult-onset axial and distal myopathy

2017 ◽  
Vol 134 (1) ◽  
pp. 163-165 ◽  
Author(s):  
Andoni Echaniz-Laguna ◽  
Xavière Lornage ◽  
Béatrice Lannes ◽  
Raphaël Schneider ◽  
Guillaume Bierry ◽  
...  
Keyword(s):  
Distal Myopathy ◽  
Adult Onset

Sporadic distal myopathy with early adult onset

1979 ◽  
Vol 5 (3) ◽  
pp. 220-227 ◽  
Author(s):  
Robert G. Miller ◽  
Nathan K. Blank ◽  
Robert B. Layzer
Keyword(s):  
Distal Myopathy ◽  
Adult Onset

Sporadic Distal Myopathy with Early Adult Onset: Study of Muscle Biopsies and Muscle Cell Cultures

1989 ◽  
Vol 29 (5) ◽  
pp. 287-290 ◽  
Author(s):  
Tiziana Mongini ◽  
Carlo Doriguzzi ◽  
Laura Palmucci ◽  
Bianca Pollo ◽  
Enrica Arnaudo ◽  
...  
Keyword(s):  
Muscle Cell ◽  
Cell Cultures ◽  
Distal Myopathy ◽  
Adult Onset ◽  
Muscle Biopsies

A novel mutation in HSPB8 causes dominant adult-onset axial and distal myopathy

2017 ◽  
Vol 27 ◽  
pp. S120
Author(s):  
A. Echaniz-Laguna ◽  
X. Lornage ◽  
B. Lannes ◽  
R. Schneider ◽  
G. Bierry ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Distal Myopathy ◽  
Adult Onset
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