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.

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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.

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


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