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Severe asymmetric muscle weakness revealing glycogenin‐1 polyglucosan body myopathy
We recently identified polyglucosan body myopathy-2, a pure skeletal myopathic form of glycogen storage disease type XV, caused by glycogenin-1 deficiency, the primingenzyme of glycogen synthesis. To date 22 patients have been reported. They have juvenile to late-onset clinical symptoms with a varia...
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Published in: | Muscle & nerve 2018-05, Vol.57 (5), p.E122-E124 |
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creator | Stojkovic, Tanya Chanut, Anaïs Laforêt, Pascal Madelaine, Angeline Petit, François Romero, Norma B. Malfatti, Edoardo |
description | We recently identified polyglucosan body myopathy-2, a pure skeletal myopathic form of glycogen storage disease type XV, caused by glycogenin-1 deficiency, the primingenzyme of glycogen synthesis. To date 22 patients have been reported. They have juvenile to late-onset clinical symptoms with a variable distribution of muscle weakness. Muscle biopsies show the accumulation of polyglucosan bodies, consisting of hyper-intense periodic acid-Schiff (PAS)-positive material with a variable resistance to alpha-amylase treatment. Although cardiacinvolvement has been reported in 4 patients with glycogenin-1 gene (GYG1) mutations, these patients did not show any clear evidence of skeletal muscle disease.Here, we describe a 63-year-old woman born to consanguineous French parents, who developed right shoulder pain, difficulty climbing stairs and left foot weakness causing stumbling episodes at 46 years of age. Over time, the patient reported increasing difficulty elevating the right arm. At 61 years of age she also developed slight difficulty with left shoulder movement, and more recently she reported rare forearm fasciculations and nocturnal cramps in her thighs, calves, and toes. |
doi_str_mv | 10.1002/mus.26030 |
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At 61 years of age she also developed slight difficulty with left shoulder movement, and more recently she reported rare forearm fasciculations and nocturnal cramps in her thighs, calves, and toes.</description><subject>glycogen storage disease XV</subject><subject>glycogenin‐1</subject><subject>Human health and pathology</subject><subject>Life Sciences</subject><subject>metabolic myopathies</subject><subject>Muscles</subject><subject>myopathology</subject><subject>Myopathy</subject><subject>polyglucosan body myopathy‐2</subject><issn>0148-639X</issn><issn>1097-4598</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2018</creationdate><recordtype>article</recordtype><recordid>eNp1kc9O3DAQhy0EKgvtgReoInEphyxjx47jI1pRqLSIA6zUm-U4kyXUibf2BpRbH6HPyJM0291SCYnTSKNP3_z5EXJCYUoB2HnbxynLIYM9MqGgZMqFKvbJBCgv0jxT3w_JUYyPAECLXH4gh0wxEBxgQhZ3-IQBExOHtsV1aGwy2qzD5BnNjw5jTMJIGNd0y2TpBuuX2DXdy6_fNFl5Nyxdb300XVL6akjawa_M-mH4SA5q4yJ-2tVjsvh6eT-7Tue3V99mF_PUcsYgFbUyMrOSC0MVNWWpRGmtQV5mtZLAeIGVpKIwNqeyzlAaJXhVS1GUUjBRZcfkbOt9ME6vQtOaMGhvGn19MdebHlAJoCB7oiP7Zcuugv_ZY1zrtokWnTMd-j5qqmQGjEqxQU_foI--D914iWbAJM-5YuL_cBt8jAHr1w0o6E0uevyk_pvLyH7eGfuyxeqV_BfECJxvgefG4fC-Sd8s7rbKPxQjl54</recordid><startdate>201805</startdate><enddate>201805</enddate><creator>Stojkovic, Tanya</creator><creator>Chanut, Anaïs</creator><creator>Laforêt, Pascal</creator><creator>Madelaine, Angeline</creator><creator>Petit, François</creator><creator>Romero, Norma B.</creator><creator>Malfatti, Edoardo</creator><general>Wiley Subscription Services, Inc</general><general>Wiley</general><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7T5</scope><scope>7TK</scope><scope>7TM</scope><scope>7TS</scope><scope>7U7</scope><scope>7U9</scope><scope>C1K</scope><scope>H94</scope><scope>K9.</scope><scope>NAPCQ</scope><scope>7X8</scope><scope>1XC</scope><scope>VOOES</scope></search><sort><creationdate>201805</creationdate><title>Severe asymmetric muscle weakness revealing glycogenin‐1 polyglucosan body myopathy</title><author>Stojkovic, Tanya ; Chanut, Anaïs ; Laforêt, Pascal ; Madelaine, Angeline ; Petit, François ; Romero, Norma B. ; Malfatti, Edoardo</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4220-5f9a73c745a191abb95bccae4b3f970248ed7158ac617f3e7a954df758b7525d3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2018</creationdate><topic>glycogen storage disease XV</topic><topic>glycogenin‐1</topic><topic>Human health and pathology</topic><topic>Life Sciences</topic><topic>metabolic myopathies</topic><topic>Muscles</topic><topic>myopathology</topic><topic>Myopathy</topic><topic>polyglucosan body myopathy‐2</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Stojkovic, Tanya</creatorcontrib><creatorcontrib>Chanut, Anaïs</creatorcontrib><creatorcontrib>Laforêt, Pascal</creatorcontrib><creatorcontrib>Madelaine, Angeline</creatorcontrib><creatorcontrib>Petit, François</creatorcontrib><creatorcontrib>Romero, Norma B.</creatorcontrib><creatorcontrib>Malfatti, Edoardo</creatorcontrib><collection>PubMed</collection><collection>CrossRef</collection><collection>Immunology Abstracts</collection><collection>Neurosciences Abstracts</collection><collection>Nucleic Acids Abstracts</collection><collection>Physical Education Index</collection><collection>Toxicology Abstracts</collection><collection>Virology and AIDS Abstracts</collection><collection>Environmental Sciences and Pollution Management</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Nursing & Allied Health Premium</collection><collection>MEDLINE - Academic</collection><collection>Hyper Article en Ligne (HAL)</collection><collection>Hyper Article en Ligne (HAL) (Open Access)</collection><jtitle>Muscle & nerve</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Stojkovic, Tanya</au><au>Chanut, Anaïs</au><au>Laforêt, Pascal</au><au>Madelaine, Angeline</au><au>Petit, François</au><au>Romero, Norma B.</au><au>Malfatti, Edoardo</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Severe asymmetric muscle weakness revealing glycogenin‐1 polyglucosan body myopathy</atitle><jtitle>Muscle & nerve</jtitle><addtitle>Muscle Nerve</addtitle><date>2018-05</date><risdate>2018</risdate><volume>57</volume><issue>5</issue><spage>E122</spage><epage>E124</epage><pages>E122-E124</pages><issn>0148-639X</issn><eissn>1097-4598</eissn><abstract>We recently identified polyglucosan body myopathy-2, a pure skeletal myopathic form of glycogen storage disease type XV, caused by glycogenin-1 deficiency, the primingenzyme of glycogen synthesis. To date 22 patients have been reported. They have juvenile to late-onset clinical symptoms with a variable distribution of muscle weakness. Muscle biopsies show the accumulation of polyglucosan bodies, consisting of hyper-intense periodic acid-Schiff (PAS)-positive material with a variable resistance to alpha-amylase treatment. Although cardiacinvolvement has been reported in 4 patients with glycogenin-1 gene (GYG1) mutations, these patients did not show any clear evidence of skeletal muscle disease.Here, we describe a 63-year-old woman born to consanguineous French parents, who developed right shoulder pain, difficulty climbing stairs and left foot weakness causing stumbling episodes at 46 years of age. Over time, the patient reported increasing difficulty elevating the right arm. At 61 years of age she also developed slight difficulty with left shoulder movement, and more recently she reported rare forearm fasciculations and nocturnal cramps in her thighs, calves, and toes.</abstract><cop>United States</cop><pub>Wiley Subscription Services, Inc</pub><pmid>29205400</pmid><doi>10.1002/mus.26030</doi><tpages>3</tpages><oa>free_for_read</oa></addata></record> |
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subjects | glycogen storage disease XV glycogenin‐1 Human health and pathology Life Sciences metabolic myopathies Muscles myopathology Myopathy polyglucosan body myopathy‐2 |
title | Severe asymmetric muscle weakness revealing glycogenin‐1 polyglucosan body myopathy |
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