Familial granulovacuolar lobular myopathy with electrical myotonia

Augusto Juguilon; David Chad; Walter G. Bradley; Lester Adelman; John Kelemen; Peter Bosch; Theodore L. Munsat

doi:10.1016/0022-510X(82)90136-8

Familial granulovacuolar lobular myopathy with electrical myotonia

Augusto Juguilon, David Chad, Walter G. Bradley, Lester Adelman, John Kelemen, Peter Bosch, Theodore L. Munsat

Neurology

Research output: Contribution to journal › Article › peer-review

3 Scopus citations

Abstract

We report 3 patients with a myopathy characterized by profound selective muscle wasting and weakness, electrical myotonia without clinical myotonia and an unusual muscle biopsy. Cryostat sections showed muscle fibers with vacuoles containing hematoxylinophilic granules, and 30% of type I fibers showed demarcation of their sarcoplasm into "lobules" due apparently to reorganization of myofibrillar elements. The electrical myotonia suggests an underlying muscle membrane defect. Two of the patients are siblings suggesting that the disorder may be inherited.

Original language	English (US)
Pages (from-to)	133-140
Number of pages	8
Journal	Journal of the neurological sciences
Volume	56
Issue number	2-3
DOIs	https://doi.org/10.1016/0022-510X(82)90136-8
State	Published - Nov 1982

ASJC Scopus subject areas

Neurology
Clinical Neurology

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title = "Familial granulovacuolar lobular myopathy with electrical myotonia",

abstract = "We report 3 patients with a myopathy characterized by profound selective muscle wasting and weakness, electrical myotonia without clinical myotonia and an unusual muscle biopsy. Cryostat sections showed muscle fibers with vacuoles containing hematoxylinophilic granules, and 30% of type I fibers showed demarcation of their sarcoplasm into {"}lobules{"} due apparently to reorganization of myofibrillar elements. The electrical myotonia suggests an underlying muscle membrane defect. Two of the patients are siblings suggesting that the disorder may be inherited.",

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T1 - Familial granulovacuolar lobular myopathy with electrical myotonia

AU - Juguilon, Augusto

AU - Chad, David

AU - Bradley, Walter G.

AU - Adelman, Lester

AU - Kelemen, John

AU - Bosch, Peter

AU - Munsat, Theodore L.

PY - 1982/11

Y1 - 1982/11

N2 - We report 3 patients with a myopathy characterized by profound selective muscle wasting and weakness, electrical myotonia without clinical myotonia and an unusual muscle biopsy. Cryostat sections showed muscle fibers with vacuoles containing hematoxylinophilic granules, and 30% of type I fibers showed demarcation of their sarcoplasm into "lobules" due apparently to reorganization of myofibrillar elements. The electrical myotonia suggests an underlying muscle membrane defect. Two of the patients are siblings suggesting that the disorder may be inherited.

AB - We report 3 patients with a myopathy characterized by profound selective muscle wasting and weakness, electrical myotonia without clinical myotonia and an unusual muscle biopsy. Cryostat sections showed muscle fibers with vacuoles containing hematoxylinophilic granules, and 30% of type I fibers showed demarcation of their sarcoplasm into "lobules" due apparently to reorganization of myofibrillar elements. The electrical myotonia suggests an underlying muscle membrane defect. Two of the patients are siblings suggesting that the disorder may be inherited.

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JO - Journal of the neurological sciences

JF - Journal of the neurological sciences

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ER -

Familial granulovacuolar lobular myopathy with electrical myotonia

Abstract

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