The rearrangement results in a plethora of abnormal LAMP2 splicing variants and also in use of likely cryptic splice sites in the 3' terminus of LAMP2 gene. [ncbi.nlm.nih.gov]

A chest X-ray showed cardiomegaly with massive pulmonary congestion. Transthoracic echocardiography demonstrated biventricular symmetrical concentric hypertrophy without left and right outflow tract gradient. [revespcardiol.org]

Autopsy or explant specimens examined at the time of transplantation reveal cardiomegaly with ventricular hypertrophy and biatrial and biventricular dilatation. [flipper.diff.org]

Our patients showed the full spectrum of both prenatal signs (hydrops, polyhydramnios) and postnatal signs (hypotonia, hyporeflexia, absence of active movements, cardiomegaly), which have been reported previously. [link.springer.com]

It was initially described by Danon MJ in 1981, who described two 16-year-old men with mental retardation, cardiomegaly, and proximal skeletal myopathy, in whom they demonstrated accumulation of glycogen in their muscles without alterations in the enzymes [scielo.org.mx]

A pathological study of his heart ( Figure 2A through 2D ) showed marked cardiomegaly (weight, 1266 g) and diffuse hypertrophy. Histopathological examination showed myocyte hypertrophy and prominent interstitial fibrosis. [nejm.org]

Sight is also commonly affected, above all in the central field of vision, but leads only seldom to serious visual impairment. The liver and spleen may become enlarged, although the symptoms are not usually serious. [ldnz.org.nz]

impairment, significant lumbar pathology, lumbar catheter, or recent major surgery within 6 weeks that would preclude their ability to participate. [rarediseasesnetwork.org]

We describe two patients: the first patient presented with severe hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome, proximal muscle weakness, and chronic painless diarrhea; the second patient manifested as limb-girdle muscle weakness, mild [ncbi.nlm.nih.gov]

Myopathy Skeletal myopathy manifests as progressive proximal muscle weakness of the shoulders, neck, and legs 1 in 80% to 90% of men. 16, 25 Weakness is seldom debilitating, and patients usually retain the ability to walk as adults. [circheartfailure.ahajournals.org]

On neurological examination, he complained of visual loss, and diffuse muscle wasting and weakness were also unexpectedly noted. Electromyography evidenced a myopathic pattern and a peripheral neuropathy. [ncbi.nlm.nih.gov]

This patient with a neglected Danon disease, experienced an unusual complication as a stroke due to cerebral hypoperfusion after cardiac arrest caused by WPW syndrome. Copyright 2016 Elsevier B.V. All rights reserved. [ncbi.nlm.nih.gov]

RESULTS: Patient A had fluctuating limb weakness during 6 months follow-up and was diagnosed with drug-induced myopathy due to anti-hepatitis B therapy with lamivudine. [ncbi.nlm.nih.gov]

One male patient showed initial QRS complex slurring with prolonged PR interval. However, the presence of an accessory pathway was excluded by an EP study in all patients. [ncbi.nlm.nih.gov]