scholarly journals CONGENITAL MYOPATHIES – CENTRONUCLEAR MYOPATHIES

2021 ◽  
Vol 31 ◽  
pp. S58
Author(s):  
S. Buono ◽  
A. Monseur ◽  
A. Menuet ◽  
A. Robé ◽  
C. Koch ◽  
...  
Keyword(s):  
Congenital Myopathies

What's new in neuromuscular disorders? The congenital myopathies

2003 ◽  
Vol 7 (1) ◽  
pp. 23-30 ◽  
Author(s):  
Heinz Jungbluth ◽  
Caroline A Sewry ◽  
Francesco Muntoni
Keyword(s):  
Neuromuscular Disorders ◽  
Congenital Myopathies

CONGENITAL MYOPATHIES

2021 ◽  
Vol 31 ◽  
pp. S65
Author(s):  
L. van den Bersselaar ◽  
N. Kruijt ◽  
S. Buckens ◽  
L. Joosten ◽  
G. Scheffer ◽  
...  
Keyword(s):  
Congenital Myopathies

CONGENITAL MYOPATHIES: GENERAL AND RYR1

2018 ◽  
Vol 28 ◽  
pp. S45
Author(s):  
M. Garibaldi ◽  
J. Rendu ◽  
J. Brocard ◽  
E. lacene ◽  
M. Beuvin ◽  
...  
Keyword(s):  
Congenital Myopathies

CONGENITAL MYOPATHIES: GENERAL AND RYR1

2018 ◽  
Vol 28 ◽  
pp. S42-S43
Author(s):  
M. Schülke ◽  
W. Stenzel ◽  
M. Schwarz ◽  
H. Goebel
Keyword(s):  
Congenital Myopathies

scholarly journals Novel SPEG mutations in congenital myopathies: Genotype–phenotype correlations

2018 ◽  
Vol 59 (3) ◽  
pp. 357-362 ◽  
Author(s):  
Anita E. Qualls ◽  
Sandra Donkervoort ◽  
Johanna C. Herkert ◽  
Alissa M. D'gama ◽  
Diana Bharucha‐Goebel ◽  
...  
Keyword(s):  
Congenital Myopathies

CONGENITAL MYOPATHIES: GENERAL AND RYR1

2018 ◽  
Vol 28 ◽  
pp. S43
Author(s):  
S. Donkervoort ◽  
P. Mohassel ◽  
N. Voermans ◽  
C. Quinn ◽  
M. van de Locht ◽  
...  
Keyword(s):  
Congenital Myopathies

CONGENITAL MYOPATHIES: NEMALINE AND TITINOPATHIES

2018 ◽  
Vol 28 ◽  
pp. S102
Author(s):  
M. Garibaldi ◽  
F. Fattori ◽  
C. Bortolotti ◽  
G. Brochier ◽  
C. Labasse ◽  
...  
Keyword(s):  
Congenital Myopathies

Corrigendum to “Recently Identified Congenital Myopathies” [Semin Pediatr Neurol 29 (2019) 83-90]

2019 ◽  
Vol 32 ◽  
pp. 100775
Author(s):  
Josefine Radke ◽  
Werner Stenzel ◽  
Hans H. Goebel
Keyword(s):  
Congenital Myopathies

scholarly journals Early Findings in Neonatal Cases of RYR1–Related Congenital Myopathies

2021 ◽  
Vol 12 ◽  
Author(s):  
Eleonora Mauri ◽  
Daniela Piga ◽  
Alessandra Govoni ◽  
Roberta Brusa ◽  
Serena Pagliarani ◽  
...  
Keyword(s):  
Ryanodine Receptor ◽  
Brain Mri ◽  
Fetal Brain ◽  
Congenital Myopathy ◽  
Receptor Type ◽  
Congenital Myopathies ◽  
Muscle Mri ◽  
Next Generation Sequencing Ngs ◽  
Generation Sequencing

Ryanodine receptor type 1-related congenital myopathies are the most represented subgroup among congenital myopathies (CMs), typically presenting a central core or multiminicore muscle histopathology and high clinical heterogeneity. We evaluated a cohort of patients affected with Ryanodine receptor type 1-related congenital myopathy (RYR1-RCM), focusing on four patients who showed a severe congenital phenotype and underwent a comprehensive characterization at few months of life. To date there are few reports on precocious instrumental assessment. In two out of the four patients, a muscle biopsy was performed in the first days of life (day 5 and 37, respectively) and electron microscopy was carried out in two patients detecting typical features of congenital myopathy. Two patients underwent brain MRI in the first months of life (15 days and 2 months, respectively), one also a fetal brain MRI. In three children electromyography was performed in the first week of life and neurogenic signs were excluded. Muscle MRI obtained within the first years of life showed a typical pattern of RYR1-CM. The diagnosis was confirmed through genetic analysis in three out of four cases using Next Generation Sequencing (NGS) panels. The development of a correct and rapid diagnosis is a priority and may lead to prompt medical management and helps optimize inclusion in future clinical trials.

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