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[A patient with limb girdle muscular dystrophy type 2B (LGMD2B) manifesting cardiomyopathy].

Authors: Satoshi, Kuru; Fumihiko, Yasuma; Tadashi, Wakayama; Seigo, Kimura; Masaaki, Konagaya; Masashi, Aoki; Masaki, Tanabe; +1 Authors

[A patient with limb girdle muscular dystrophy type 2B (LGMD2B) manifesting cardiomyopathy].

Abstract

A 57-year-old woman first noticed difficulty in walking at the age of 34 years, and since then muscle wasting and weakness in the lower limbs and proximal portion of the upper limbs had progressed slowly. Serum CK was elevated. Immunohistochemical study of the biceps brachii muscle showed deficiency of dysferlin in sarcolemma, and the dysferlin gene analysis disclosed 3370 G-->T missense mutation. These findings led us to diagnose her as LGMD2B. Moreover echocardiogram revealed ventricular enlargement and diffuse hypokinesia suggesting secondary cardiomyopathy atributable to muscular dystrophy. Careful cardiac monitoring should be carried out in dysferlinopathy patients.

Related Organizations
Keywords

Mutation, Missense, Humans, Membrane Proteins, Muscle Proteins, Female, Middle Aged, Cardiomyopathies, Dysferlin, Muscular Dystrophies

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Powered by OpenAIRE graph
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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
37
Top 10%
Top 10%
Top 10%
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