An elderly-onset limb girdle muscular dystrophy type 1B (LGMD1B) with pseudo-hypertrophy of paraspinal muscles
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- 作者：Mitsuru Furutaa ; Hisae Sumi-Akamarua ; Masanori P. Takahashia ; Yukiko K. Hayashib ; Ichizo Nishinoc ; Hideki Mochizukia ; hmochizuki@neurol.med.osaka-u.ac.jp" class="auth_mail" title="E-mail the corresponding author
- 关键词：LMNA ; Laminopathy ; Limb-girdle muscular dystrophy type 1B ; Pseudo-hypertrophy ; Late-onset
- 刊名：Neuromuscular Disorders
- 出版年：2016
- 出版时间：September 2016
- 年：2016
- 卷：26
- 期：9
- 页码：593-597
- 全文大小：1327 K
文摘
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LGMD1B with paraspinal pseudo-hypertrophy is presented.
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Late-onset and paraspinal pseudo-hypertrophy make this case unique.
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p.Arg377His mutation in LMNA causes diverse phenotypes.
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Paraspinal pseudo-hypertrophy might be related to elderly-onset myopathies.