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COL6A1 mutation leading to Bethlem myopathy with recurrent hematuria: a case report.
Bao, Mengxin; Mao, Fei; Zhao, Zhangning; Ma, Gaoting; Xu, Guangjun; Xu, Wenjuan; Chen, Huan; Zhu, Meijia.
Afiliación
  • Bao M; Department of Neurology, Affiliated Qianfoshan Hospital of Shandong University, NO.16766, Jingshi Road, Shandong, Jinan, 250014, CN, China.
  • Mao F; Department of Neurology, Liaocheng People's Hospital, NO 67, West Dongchang Road, Shandong, Liaocheng City, 252000, CN, China.
  • Zhao Z; Department of Neurology, Affiliated Qianfoshan Hospital of Shandong University, NO.16766, Jingshi Road, Shandong, Jinan, 250014, CN, China.
  • Ma G; Department of Neurology, Affiliated Qianfoshan Hospital of Shandong University, NO.16766, Jingshi Road, Shandong, Jinan, 250014, CN, China.
  • Xu G; Department of Neurology, Affiliated Qianfoshan Hospital of Shandong University, NO.16766, Jingshi Road, Shandong, Jinan, 250014, CN, China.
  • Xu W; Department of Neurology, Liaocheng People's Hospital, NO 67, West Dongchang Road, Shandong, Liaocheng City, 252000, CN, China.
  • Chen H; Department of Neurology, Affiliated Qianfoshan Hospital of Shandong University, NO.16766, Jingshi Road, Shandong, Jinan, 250014, CN, China.
  • Zhu M; Department of Neurology, First People's Hospital of Jinan, NO. 132, Daminghu Road, Shandong, Jinan, 250013, CN, China.
BMC Neurol ; 19(1): 32, 2019 Feb 26.
Article en En | MEDLINE | ID: mdl-30808312
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Contractura / Colágeno Tipo VI / Distrofias Musculares Tipo de estudio: Diagnostic_studies / Etiology_studies Límite: Adolescent / Humans / Male Idioma: En Revista: BMC Neurol Asunto de la revista: NEUROLOGIA Año: 2019 Tipo del documento: Article País de afiliación: China
Texto completo
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Contractura / Colágeno Tipo VI / Distrofias Musculares Tipo de estudio: Diagnostic_studies / Etiology_studies Límite: Adolescent / Humans / Male Idioma: En Revista: BMC Neurol Asunto de la revista: NEUROLOGIA Año: 2019 Tipo del documento: Article País de afiliación: China