Dia­gnostic Pitfalls of an Atypical Form 
of Congenital Muscular Dystrophy –  Partial Merosin Deficiency –  Case Reports

2017 ◽  
Vol 80/113 (1) ◽  
pp. 101-106
Author(s):  
Alžběta Slabá ◽  
Lenka Fajkusová ◽  
Kristýna Stehlíková ◽  
Rita Barresi ◽  
Martin Kynčl ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Case Reports ◽  
Congenital Muscular Dystrophy ◽  
Atypical Form ◽  
Merosin Deficiency

scholarly journals Assignment of a Form of Congenital Muscular Dystrophy with Secondary Merosin Deficiency to Chromosome 1q42

2000 ◽  
Vol 66 (2) ◽  
pp. 428-435 ◽  
Author(s):  
Martin Brockington ◽  
Caroline A. Sewry ◽  
Ralf Herrmann ◽  
Isam Naom ◽  
Andrew Dearlove ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Congenital Muscular Dystrophy ◽  
Merosin Deficiency

Congenital muscular dystrophy: Case reports and reappraisal

1979 ◽  
Vol 2 (5) ◽  
pp. 349-355 ◽  
Author(s):  
Reynaldo P. Lazaro ◽  
Gerald M. Fenichel ◽  
Anthony W. Kilroy
Keyword(s):  
Muscular Dystrophy ◽  
Case Reports ◽  
Congenital Muscular Dystrophy

Cardiac manifestations of congenital LMNA-related muscular dystrophy in children: three case reports and recommendations for care

2016 ◽  
Vol 27 (6) ◽  
pp. 1076-1082 ◽  
Author(s):  
Felice Heller ◽  
Ivana Dabaj ◽  
Jean K. Mah ◽  
Jean Bergounioux ◽  
Aben Essid ◽  
...  
Keyword(s):  
Heart Failure ◽  
Muscular Dystrophy ◽  
Case Reports ◽  
Congenital Muscular Dystrophy ◽  
Right Heart Failure ◽  
Left Ventricular ◽  
Left Ventricular Ejection ◽  
Rapid Decline ◽  
Ventricular Ejection Fraction ◽  
Cardiac Manifestations

AbstractSkeletal and cardiac muscle laminopathies, caused by mutations in the lamin A/C gene, have a clinical spectrum from congenital LMNA-related muscular dystrophy to later-onset Emery–Dreifuss muscular dystrophy, limb girdle muscular dystrophy, and dilated cardiomyopathy. Although cardiac involvement is observed at all ages, it has only been well described in adults. We present the evolution of cardiac disease in three children with congenital muscular dystrophy presentation of LMNA-related muscular dystrophy. In this series, atrial arrhythmia was the presenting cardiac finding in all three patients. Heart failure developed up to 5 years later. Symptoms of right heart failure, including diarrhoea and peripheral oedema, preceded a rapid decline in left ventricular ejection fraction. Recommendations for cardiac surveillance and management in these patients are made.

Congenital Muscular Dystrophy with Secondary Merosin Deficiency and Normal Brain MRI: A Novel Entity?

2000 ◽  
Vol 31 (4) ◽  
pp. 186-189 ◽  
Author(s):  
E. Mercuri ◽  
Caroline A. Sewry ◽  
Susan C. Brown ◽  
M. Brockington ◽  
H. Jungbluth ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Brain Mri ◽  
Congenital Muscular Dystrophy ◽  
Normal Brain ◽  
Merosin Deficiency

Congenital muscular dystrophy: use of brain MR imaging findings to predict merosin deficiency.

Radiology ◽  
1998 ◽  
Vol 206 (3) ◽  
pp. 811-816 ◽  
Author(s):  
S Lamer ◽  
R Y Carlier ◽  
J M Pinard ◽  
D Mompoint ◽  
C Bagard ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Mr Imaging ◽  
Congenital Muscular Dystrophy ◽  
Imaging Findings ◽  
Merosin Deficiency

Congenital muscular dystrophy with merosin deficiency: MRI findings in five patients

1998 ◽  
Vol 40 (12) ◽  
pp. 807-811 ◽  
Author(s):  
L. Farina ◽  
L. Morandi ◽  
I. Milanesi ◽  
E. Ciceri ◽  
M. Mora ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Congenital Muscular Dystrophy ◽  
Mri Findings ◽  
Merosin Deficiency

POMKmutation in a family with congenital muscular dystrophy with merosin deficiency, hypomyelination, mild hearing deficit and intellectual disability

2014 ◽  
Vol 51 (4) ◽  
pp. 275-282 ◽  
Author(s):  
Anja von Renesse ◽  
Mina V Petkova ◽  
Susanne Lützkendorf ◽  
Jan Heinemeyer ◽  
Esther Gill ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Muscular Dystrophy ◽  
Congenital Muscular Dystrophy ◽  
Merosin Deficiency
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