Limb ⁃ girdle muscular dystrophy with congenital myasthenic syndrome caused by GMPPB gene mutation: one case report

Bibliographic Details
Main Authors: LI Ran, ZOU Hui‑min, XING Chun‑ye, SONG Jin, HAO Yan‑lei
Format: Article
Language:English
Published: Tianjin Huanhu Hospital 2023-09-01
Series:Chinese Journal of Contemporary Neurology and Neurosurgery
Subjects:
Online Access:http://cjcnn.org/index.php/cjcnn/article/view/2756
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author LI Ran
ZOU Hui‑min
XING Chun‑ye
SONG Jin
HAO Yan‑lei
author_facet LI Ran
ZOU Hui‑min
XING Chun‑ye
SONG Jin
HAO Yan‑lei
author_sort LI Ran
collection DOAJ
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institution Directory Open Access Journal
issn 1672-6731
language English
last_indexed 2024-03-11T19:05:02Z
publishDate 2023-09-01
publisher Tianjin Huanhu Hospital
record_format Article
series Chinese Journal of Contemporary Neurology and Neurosurgery
spelling doaj.art-25beb4896c43491a9ac4624cc87966fd2023-10-10T08:36:17ZengTianjin Huanhu HospitalChinese Journal of Contemporary Neurology and Neurosurgery1672-67312023-09-0123983283710.3969/j.issn.1672⁃6731.2023.09.0102710Limb ⁃ girdle muscular dystrophy with congenital myasthenic syndrome caused by GMPPB gene mutation: one case reportLI Ran0ZOU Hui‑min1XING Chun‑ye2SONG Jin3HAO Yan‑lei4Grade 2022, School of Basic Medical Sciences, Shandong University, Ji'nan 250012, Shandong, ChinaDepartment of Neurology, Affiliated Hospital of Ji'ning Medical University, Ji'ning 272007, Shandong, ChinaDepartment of Neurology, Affiliated Hospital of Ji'ning Medical University, Ji'ning 272007, Shandong, ChinaDepartment of Neurology, Affiliated Hospital of Ji'ning Medical University, Ji'ning 272007, Shandong, ChinaDepartment of Neurology, Affiliated Hospital of Ji'ning Medical University, Ji'ning 272007, Shandong, Chinahttp://cjcnn.org/index.php/cjcnn/article/view/2756muscular dystrophies, limb‑girdlemyasthenic syndromes, congenitalgenesmutationcase reports
spellingShingle LI Ran
ZOU Hui‑min
XING Chun‑ye
SONG Jin
HAO Yan‑lei
Limb ⁃ girdle muscular dystrophy with congenital myasthenic syndrome caused by GMPPB gene mutation: one case report
Chinese Journal of Contemporary Neurology and Neurosurgery
muscular dystrophies, limb‑girdle
myasthenic syndromes, congenital
genes
mutation
case reports
title Limb ⁃ girdle muscular dystrophy with congenital myasthenic syndrome caused by GMPPB gene mutation: one case report
title_full Limb ⁃ girdle muscular dystrophy with congenital myasthenic syndrome caused by GMPPB gene mutation: one case report
title_fullStr Limb ⁃ girdle muscular dystrophy with congenital myasthenic syndrome caused by GMPPB gene mutation: one case report
title_full_unstemmed Limb ⁃ girdle muscular dystrophy with congenital myasthenic syndrome caused by GMPPB gene mutation: one case report
title_short Limb ⁃ girdle muscular dystrophy with congenital myasthenic syndrome caused by GMPPB gene mutation: one case report
title_sort limb ⁃ girdle muscular dystrophy with congenital myasthenic syndrome caused by gmppb gene mutation one case report
topic muscular dystrophies, limb‑girdle
myasthenic syndromes, congenital
genes
mutation
case reports
url http://cjcnn.org/index.php/cjcnn/article/view/2756
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AT zouhuimin limbgirdlemusculardystrophywithcongenitalmyasthenicsyndromecausedbygmppbgenemutationonecasereport
AT xingchunye limbgirdlemusculardystrophywithcongenitalmyasthenicsyndromecausedbygmppbgenemutationonecasereport
AT songjin limbgirdlemusculardystrophywithcongenitalmyasthenicsyndromecausedbygmppbgenemutationonecasereport
AT haoyanlei limbgirdlemusculardystrophywithcongenitalmyasthenicsyndromecausedbygmppbgenemutationonecasereport