Copenhagen Neuromuscular Center, Department of Neurology, 2081, Rigshospitalet, Blegdamsvej 9, DK-2100 Copenhagen, Denmark.
The Danish National Rehabilitation Centre for Neuromuscular Diseases, Aarhus, Denmark.
Muscle Nerve. 2018 Jun;57(6):1026-1030. doi: 10.1002/mus.26067. Epub 2018 Feb 5.
Mutation in the collagen XII gene (COL12A1) was recently reported to induce Bethlem myopathy. We describe a family affected by collagen XII-related myopathy in 3 generations.
Systematic interview, clinical examination, skin biopsies, and MRI of muscle were used.
The phenotype was characterized by neonatal hypotonia, contractures, and delayed motor development followed by resolution of contractures and a motor performance limited by reduced endurance. DNA analyses revealed a novel donor splice-site mutation in COL12A1 (c.8100 + 2T>C), which segregated with clinical affection and abnormal collagen XII retention in fibroblasts. MRI disclosed a selective wasting of the rectus femoris muscle.
COL12A1 mutations should be considered in patients with a mild Bethlem phenotype who present with selective wasting of the rectus femoris, absence of the outside-in phenomenon on MRI, and abnormal collagen XII retention in fibroblasts. Muscle Nerve 57: 1026-1030, 2018.
最近有报道称，胶原 XII 基因（COL12A1）的突变可引起 Bethlem 肌病。我们描述了一个受影响的三代人胶原 XII 相关肌病的家族。
系统的访谈、临床检查、皮肤活检和肌肉 MRI 用于检查。
表型的特征是新生儿张力减退、挛缩和运动发育迟缓，随后挛缩缓解，运动表现受耐力降低限制。DNA 分析显示 COL12A1 中存在一个新的供体位点突变（c.8100 + 2T>C），与临床受累和成纤维细胞中异常胶原 XII 蓄积呈共分离。MRI 显示股直肌选择性萎缩。
在表现为股直肌选择性萎缩、MRI 上无由外向内现象、成纤维细胞中异常胶原 XII 蓄积的轻度 Bethlem 表型患者中，应考虑 COL12A1 突变。神经肌肉 57：1026-1030，2018。
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