The higher the creatine kinase level indicates more unusual muscle damage Muscle biopsy: It is the examination of muscle under the microscope by a pathologist. [dovemed.com]

PMID: 25091525 Assay Assay and technical information Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion [invitae.com]

ventricular dysfunction and life-threatening arrhythmias, which should lead to consideration of special indications for intracardiac defibrillator implantation.21 Because heterozygote carriers of LMNA mutations can have no neuromuscular symptoms, heterozygote [dev.docslide.net]

They al- so developed decreased ejection fraction with global left ventricular dysfunction in their 3rd decade, severe quadriparesis and relative sparing of the face, and characteristically a broad based triangular tongue. [docksci.com]

Heterozygosity for LMNA R482Q mutation causes FPLD, which is associated with increased risk of hyperlipidemia and hypertension. [ncbi.nlm.nih.gov]

Publication Analysis Top Keywords hyperlipidemia hypertension 4 [pubfacts.com]

This 41-year-old woman was first eval- uated at 24 years of age after presenting with right- sided horizontal diplopia and dizziness. She under- went a cranial MRI and serologic and CSF studies and was diagnosed with multiple sclerosis. [dev.docslide.net]

contracture Hyperbetalipoproteinemia Elevated serum creatine phosphokinase Muscular dystrophy Arrhythmia ... [familydiagnosis.com]

People affected with EDMD often have flexion contractures of the elbows and ankles. Elbow contractures force the elbow to remain bent at an angle. [mda.org.au]

contractures of the elbows Wheelchair dependency after age 16 years Preservation of neck flexor muscle strength differentiates BMD from DMD The most common cause of death in BMD-affected patients is dilated cardiomyopathy and heart failure. [centogene.com]

[…] a) Southern blotting b) Northern blotting c) Western blotting d) Hybridization 1.23) A 21-year-old female patient presents with facial muscle fatigue and upper arm weakness. She came to the clinic due to new weakness in her legs. [quizlet.com]

She had mild facial weakness that did not disturb whistling, smil- ing, or eye closure. Severe wasting was present in the shoulder and pelvic girdles, deltoid, and quad- riceps muscles. [dev.docslide.net]

Since that time, she has had several episodes of dizziness, paresthesia, or motor discoordination in the upper limbs, along with progressive arreflexic lower limb weakness. [dev.docslide.net]

The only symptoms he reported were sporadic dizziness and fatigue during sports activities, but no pre-syncope, syncope or palpitations. His personal history included previous diagnoses of allergic asthma and rhinitis. [elsevier.pt]

This 46-year-old man was first eval- uated at 12 years of age for clumsy gait. At 16, he underwent surgery for Achilles tendon shortening. [dev.docslide.net]

gait, frequent falls, trouble climbing stairs Earliest presenting symptom of DMD weakness in neck flexors-preschool years X-linked MD w/ an Age of Onset within the first 5 years of life in DMD the Scoliosis prevalence is 33-100%, and usually develops [quizlet.com]

Since that time, she has had several episodes of dizziness, paresthesia, or motor discoordination in the upper limbs, along with progressive arreflexic lower limb weakness. [dev.docslide.net]

Emery-Dreifuss muscular dystrophy Symptoms List: Emery-Dreifuss muscular dystrophy type 3, autosomal recessive Symptoms and clinical features may include: 2 Clinical Features of Emery-Dreifuss muscular dystrophy type 3, autosomal recessive : Gait disturbance Hypertriglyceridemia [familydiagnosis.com]