Novel TNNT1 mutation and mild nemaline myopathy phenotype in an Italian patient

2021 ◽  
Author(s):  
Antonio Petrucci ◽  
Guido Primiano ◽  
Marco Savarese ◽  
Cristina Sancricca ◽  
Bjarne Udd ◽  
...  
Keyword(s):  
Nemaline Myopathy ◽  
Italian Patient

Identification of the novel HLA‐DRB1 *03:01:32. New allele in an Italian patient

HLA ◽  
2021 ◽  
Author(s):  
T. Galluccio ◽  
M. C. Artesiani ◽  
M. Troiano ◽  
G. Testa ◽  
M. Andreani
Keyword(s):  
The Novel ◽  
Italian Patient

α-Actinin and myosin light chains in congenital nemaline myopathy

1990 ◽  
Vol 6 (3) ◽  
pp. 171-174 ◽  
Author(s):  
Carina Wallgren-Pettersson ◽  
Pirkko Arjomaa ◽  
Christer Holmberg
Keyword(s):  
Nemaline Myopathy ◽  
Light Chains ◽  
Myosin Light Chains

Deep sequencing detects very-low-grade somatic mosaicism in the unaffected mother of siblings with nemaline myopathy

2014 ◽  
Vol 24 (7) ◽  
pp. 642-647 ◽  
Author(s):  
Satoko Miyatake ◽  
Eriko Koshimizu ◽  
Yukiko K. Hayashi ◽  
Kazushi Miya ◽  
Masaaki Shiina ◽  
...  
Keyword(s):  
Deep Sequencing ◽  
Somatic Mosaicism ◽  
Nemaline Myopathy ◽  
Low Grade

Neonatal-onset nemaline myopathy mimicking congenital diaphragmatic hernia

2007 ◽  
Vol 42 (7) ◽  
pp. e19-e22 ◽  
Author(s):  
Olivier Danhaive ◽  
Simona Lozzi ◽  
Adele D'amico ◽  
Rita Devito ◽  
Renata Boldrini ◽  
...  
Keyword(s):  
Congenital Diaphragmatic Hernia ◽  
Diaphragmatic Hernia ◽  
Nemaline Myopathy ◽  
Neonatal Onset

Rod Distribution and Muscle Fiber Type Modification in the Progression of Nemaline Myopathy

2003 ◽  
Vol 18 (3) ◽  
pp. 235-240 ◽  
Author(s):  
Umbertina C. Reed ◽  
Sueli K. Marie ◽  
Edmar Zanoteli ◽  
Moacir A. T. Fireman ◽  
Acary S. B. Oliveira ◽  
...  
Keyword(s):  
Muscle Fiber ◽  
Fiber Type ◽  
Nemaline Myopathy ◽  
Muscle Fiber Type

Nemaline Myopathy as a Cause of Sleep Hypoventilation

PEDIATRICS ◽  
1986 ◽  
Vol 77 (3) ◽  
pp. 390-395
Author(s):  
Ch. Maayan ◽  
C. Springer ◽  
Y. Armon ◽  
E. Bar-Yishay ◽  
V. Shapira ◽  
...  
Keyword(s):  
Mechanical Ventilation ◽  
Respiratory Failure ◽  
Ventilatory Response ◽  
Nemaline Myopathy ◽  
Cor Pulmonale ◽  
Systemic Hypertension ◽  
Older Patient ◽  
And Function ◽  
Ventilatory Response To Co2

Two siblings, a 14.5-year-old boy and his 11.5-year-old sister, with congenital nemaline myopathy presented with severe respiratory failure and, in the case of the older patient, with cor pulmonale and systemic hypertension. The children were treated initially by continuous mechanical ventilation, but after a few weeks they only required ventilation at night. At the start of treatment, both were found to have a decreased ventilatory response to CO2 which apparently improved during 4 to 5 years of follow-up treatment. It has not been possible to wean them from nocturnal mechanical ventilation, but during the daytime they attend school and function almost normally. It is postulated that respiratory failure in nemaline myopathy may not be related to the severity of the muscle weakness but may result from a disturbance of the feedback required for normal control of breathing.

scholarly journals New mutations found by Next-Generation Sequencing screening of Spanish patients with Nemaline Myopathy

PLoS ONE ◽  
2018 ◽  
Vol 13 (12) ◽  
pp. e0207296 ◽  
Author(s):  
Sarah Moreau-Le Lan ◽  
Elena Aller ◽  
Ines Calabria ◽  
Lola Gonzalez-Tarancon ◽  
Cristina Cardona-Gay ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Nemaline Myopathy ◽  
Next Generation ◽  
Generation Sequencing ◽  
New Mutations
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