Update on congenital myopathies and congenital muscular dystrophies

2021 ◽  
Vol 429 ◽  
pp. 117965
Author(s):  
Haluk Topaloglu
Keyword(s):  
Muscular Dystrophies ◽  
Congenital Myopathies

Congenital muscular dystrophies and unstructured congenital myopathies

1980 ◽  
Vol 2 (2) ◽  
pp. 120-125 ◽  
Author(s):  
Hans-Gerd Lenard ◽  
Hans-Hilmar Goebel
Keyword(s):  
Muscular Dystrophies ◽  
Congenital Myopathies

Diagnostic value of muscle MRI in rare congenital myopathies and collagen related muscular dystrophies

2017 ◽  
Vol 27 ◽  
pp. S41-S42
Author(s):  
N. McCrea ◽  
A. Sarkozy ◽  
S. Robb ◽  
R. Mein ◽  
P. Munot ◽  
...  
Keyword(s):  
Diagnostic Value ◽  
Muscular Dystrophies ◽  
Congenital Myopathies ◽  
Muscle Mri

P88-F Electromyographic findings in our cohort of patients with congenital muscular dystrophies and congenital myopathies

2019 ◽  
Vol 130 (7) ◽  
pp. e93
Author(s):  
Margarida Gratacòs-Viñola ◽  
Núria Raguer ◽  
Elena Lainez ◽  
José L. Seoane ◽  
Angel Garcia-Montañez ◽  
...  
Keyword(s):  
Muscular Dystrophies ◽  
Congenital Myopathies

Congenital myopathies and congenital muscular dystrophies

2001 ◽  
Vol 14 (5) ◽  
pp. 575-582 ◽  
Author(s):  
Niall Tubridy ◽  
Bertrand Fontaine ◽  
Bruno Eymard
Keyword(s):  
Muscular Dystrophies ◽  
Congenital Myopathies

Motor unit reorganization in progressive muscular dystrophies and congenital myopathies

2015 ◽  
Vol 49 (4) ◽  
pp. 223-228 ◽  
Author(s):  
Elżbieta Szmidt-Sałkowska ◽  
Małgorzata Gaweł ◽  
Marta Lipowska
Keyword(s):  
Motor Unit ◽  
Muscular Dystrophies ◽  
Congenital Myopathies

Congenital Muscular Dystrophies and Myopathies: An Overview and Update

2017 ◽  
Vol 48 (04) ◽  
pp. 247-261 ◽  
Author(s):  
Janbernd Kirschner ◽  
Carsten Bönnemann ◽  
David Schorling
Keyword(s):  
Genetic Background ◽  
Wide Spectrum ◽  
Clinical Care ◽  
Genetic Diagnosis ◽  
Muscular Dystrophies ◽  
Congenital Myopathies ◽  
Clinical Phenotypes ◽  
Recent Advances ◽  
The Right ◽  
Therapeutic Considerations

AbstractWith continuous deciphering of the genetic background of congenital muscular dystrophies and congenital myopathies, some of the historic classifications based on clinical phenotypes or histopathological similarities have become blurred. With a growing number of associated genes, the general understanding of these disorders is shifting to a more genotype-based classification. Furthermore, establishing of the right genetic diagnosis involves new aspects of clinical care and therapeutic considerations for gene-specific phenotypes and pathology. In this review, we give an overview of the wide spectrum of clinical phenotypes of congenital muscular dystrophies and congenital myopathies, outline diagnostic considerations, and summarize recent advances in research for selected diseases.

Respiratory insight to congenital muscular dystrophies and congenital myopathies and its relation to clinical trial

2018 ◽  
Vol 28 (9) ◽  
pp. 731-740 ◽  
Author(s):  
Brigitte Fauroux ◽  
Alessandro Amaddeo ◽  
Susana Quijano-Roy ◽  
Christine Barnerias ◽  
Isabelle Desguerre ◽  
...  
Keyword(s):  
Clinical Trial ◽  
Muscular Dystrophies ◽  
Congenital Myopathies
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