Atypical keratosis pilaris‐like lesions in a patient with Bethlem myopathy

2021 ◽  
Author(s):  
Stephanie S. Lee ◽  
Brian Hinds ◽  
Jessica Sprague ◽  
Victoria Regina Barrio ◽  
Jennifer Brescoll Mancuso
Keyword(s):  
Bethlem Myopathy

Bethlem Myopathy Phenotypes and Follow Up: Description of 8 Patients at the Mildest End of the Spectrum

2016 ◽  
Vol 3 (2) ◽  
pp. 267-274 ◽  
Author(s):  
Simao Cruz ◽  
Sebastian Figueroa-Bonaparte ◽  
Eduard Gallardo ◽  
Alix de Becdelièvre ◽  
Corine Gartioux ◽  
...  
Keyword(s):  
Bethlem Myopathy

Autosomal recessive Bethlem myopathy

Neurology ◽  
2009 ◽  
Vol 73 (22) ◽  
pp. 1883-1891 ◽  
Author(s):  
F. Gualandi ◽  
A. Urciuolo ◽  
E. Martoni ◽  
P. Sabatelli ◽  
S. Squarzoni ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Bethlem Myopathy

Bethlem myopathy phenotypes and follow up: Description of 8 patients in the mildest end of the spectrum

2016 ◽  
Vol 26 ◽  
pp. S187-S188
Author(s):  
S. Cruz ◽  
S. Figueroa-Bonaparte ◽  
E. Gallardo ◽  
A. de Becdelièvre ◽  
C. Gartioux ◽  
...  
Keyword(s):  
Bethlem Myopathy

TRPV4 gene polymorphism as a phenotype modifier in a family with COL6-linked Bethlem myopathy

2016 ◽  
Vol 26 ◽  
pp. S188 ◽  
Author(s):  
S. Leonard-Louis ◽  
P. Latour ◽  
A. De Becdelievre ◽  
C. Themar-Noel ◽  
E. Fournier ◽  
...  
Keyword(s):  
Gene Polymorphism ◽  
Bethlem Myopathy

Bethlem Myopathy

2017 ◽  
pp. 119-122
Author(s):  
Corrado Angelini
Keyword(s):  
Bethlem Myopathy

Bethlem myopathy type 1 caused by a new mutation in COL6A1gene in an Albanian patient

2021 ◽  
Vol 429 ◽  
pp. 118273
Author(s):  
Anila Babameto ◽  
Aida Bushati ◽  
Aferdita Tako ◽  
Jera Kruja
Keyword(s):  
New Mutation ◽  
Bethlem Myopathy

Moderate‐intensity aerobic exercise improves physical fitness in bethlem myopathy

2019 ◽  
Vol 60 (2) ◽  
pp. 183-188
Author(s):  
Christoffer Rasmus Vissing ◽  
Gitte Hedermann ◽  
John Vissing
Keyword(s):  
Physical Fitness ◽  
Aerobic Exercise ◽  
Moderate Intensity ◽  
Bethlem Myopathy

scholarly journals WITHDRAWN: Autosomal recessive Bethlem myopathy: A clinical, genetic and functional study

2019 ◽  
Author(s):  
Filomena Caria ◽  
Matilde Cescon ◽  
Francesca Gualandi ◽  
Anna Pichiecchio ◽  
Rachele Rossi ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Functional Study ◽  
Clinical Genetic ◽  
Bethlem Myopathy

scholarly journals COL6A1 mutation leading to Bethlem myopathy with recurrent hematuria: a case report

BMC Neurology ◽  
2019 ◽  
Vol 19 (1) ◽  
Author(s):  
Mengxin Bao ◽  
Fei Mao ◽  
Zhangning Zhao ◽  
Gaoting Ma ◽  
Guangjun Xu ◽  
...  
Keyword(s):  
Case Report ◽  
Bethlem Myopathy ◽  
Recurrent Hematuria

EM.P.4.07 Autosomal recessive Bethlem myopathy

2009 ◽  
Vol 19 (8-9) ◽  
pp. 608-609
Author(s):  
F. Gualandi ◽  
A. Urciuolo ◽  
E. Martoni ◽  
P. Sabatelli ◽  
S. Squarzoni ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Bethlem Myopathy
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