New PDF release: Genetic Neuromuscular Disorders: A Case-Based Approach

By Corrado Angelini

ISBN-10: 3319074997

ISBN-13: 9783319074993

ISBN-10: 3319075004

ISBN-13: 9783319075006

This ebook describes the genetic diagnostic entities of neuromuscular issues. each one neuromuscular syndrome is gifted clinically as a case research, observed via textual content reviewing assorted molecular defects, DNA study and differential analysis.

This selection of neuromuscular problems gains the various medical phenotypes on the topic of every one genotype and are consultant of the total spectrum of a genetic muscle sickness, assisting the clinician and neuromuscular doctor to make a analysis. Key issues for every genetic illness are pointed out to indicate therapy, whilst to be had, or the most scientific assessments helpful in follow-up of patients.

Genetic Neuromuscular problems: A Case-Based Approach is geared toward neuromuscular physicians and neurology residents.

Show description

Read or Download Genetic Neuromuscular Disorders: A Case-Based Approach PDF

Similar neurology books

Multiple Sclerosis: The History of a Disease by Dr. T. Jock Murray MS PDF

During this elegantly written and accomplished heritage, we meet people who suffered with a number of sclerosis within the centuries ahead of the sickness had a reputation, together with blessed Lidwina of Holland, who took pleasure from her distress, believing that she was once despatched to simply accept affliction for the sins of others; Augustus, grandson of George III and cousin of Queen Victoria, whose case exhibits how anyone with entry to the simplest of therapy of the age was once understood and controlled; and Heinrich Heine, the good German poet, who additionally had entry to all scientific companies that have been to be had, yet who advanced into his bed grave in 20 years, conscious of the lack of actual skill whereas nonetheless in a position to compose nice poetry to the tip.

Download e-book for kindle: Basiswissen Neurologie by Peter Berlit

Ihr Wegweiser durch die Neurologie: Knapp und anschaulich beschreibt der Autor die wichtigsten neurologischen Krankheiten und ihre Leitsymptome. Über three hundred hervorragende anatomisch-pathologische Zeichnungen visualisieren die komplexen Zusammenhänge zwischen Ursachen und resultierenden Störungen. Eine moderne Didaktik unterstützt den Lernprozess: Kurze Blicke auf das Wesentliche erleichtern das Repetieren, quickly mühelos erschließen Definitionskästchen Studenten das Fach.

Otmar Meienberg, M. Mumenthaler's Sakkadische Augenbewegungen in der neurologischen und PDF

Die Untersuchung der Augenmotilität kann einerseits eine Parese, andererseits aber auch Anomalien im Ablauf der Blickbewegungen aufdecken. Diese letzteren geschehen durch sakkadische Augenbewegungen, deren exakte Erfassung und examine mittels okulographischer Methoden möglich ist. Erst diese exakt reproduzierbaren, registrierbaren und quantifizierbaren Techniken erlauben einen wissenschaftlich fundierten Einsatz in der neuroophthalmologischen Diagnostik.

Extra info for Genetic Neuromuscular Disorders: A Case-Based Approach

Example text

Neurology. 1990;40:808–12. 2. Angelini C, Fanin M, Pegoraro E, et al. Clinical-molecular correlation in 104 mild X-linked muscular dystrophy patients: characterization of subclinical phenotypes. Neuromuscul Disord. 1994;4:349–58. 3. Angelini C, Fanin M, Freda MP, et al. Prognostic factors in mild dystrophinopathies. J Neurol Sci. 1996;142:70–8. References 17 4. Melacini P, Fanin M, Danieli GA, et al. Cardiac involvement in Becker muscular dystrophy. J Am Coll Cardiol. 1993;22:1927–34. 5. Melacini P, Fanin M, Danieli GA, et al.

The right ventricular free wall appeared translucent due to fibrofatty replacement (Fig. 1). The mitral valve had a mild fibrous thickening of the free edges, which was more prominent in the anterior leaflet and with a rupture of one tendinous chorda. She died 12 years later from rejection of transplant. Laboratory Exams a 11 c e b d f Fig. 1 Dystrophin immunofluorescence analysis in skeletal muscle from control (a) and the patient (b) showing some fibers (asterisk) with almost absent reaction.

Unless for an occasional episode of malaise and hyperCKemia after dehydration, he is currently asymptomatic. C. 1 X-linked recessive e d g h Fig. 1 Patients affected with BMD. Note hypotrophy of quadriceps muscles (b, d, e, g, h), broad base posture (d, e), hypertrophy of the calves (a, e), and Gowers’ maneuver (f). Some patients developed severe cardiomyopathy and required heart transplantation (g, h). Patient 1 (a), patient 2 (b), patient 3 (c, d), patient 4 (e), patient 5 (f), and patient 6 (g, h) Laboratory Exam 15 Patient 2 (Fig.

Download PDF sample

Genetic Neuromuscular Disorders: A Case-Based Approach by Corrado Angelini

by Michael

Rated 4.50 of 5 – based on 27 votes