与LAMA2相关的肌病：在先天性和肢带型肌营养不良症中的发病率。
LAMA2-related myopathy: Frequency among congenital and limb-girdle muscular dystrophies.
作者信息
Løkken Nicoline, Born Alfred Peter, Duno Morten, Vissing John
机构信息
Copenhagen Neuromuscular Center, section 3342, Righospitalet, Blegdamsvej 9, DK-2100, Copenhagen, Denmark.
Department of Pediatrics, Rigshospitalet, University of Copenhagen, Denmark.
出版信息
Muscle Nerve. 2015 Oct;52(4):547-53. doi: 10.1002/mus.24588. Epub 2015 Aug 13.
INTRODUCTION
Muscular dystrophy caused by LAMA2-gene mutations is an autosomal recessive disease typically presenting as a severe, early-onset congenital muscular dystrophy (CMD). However, milder cases with a limb-girdle type muscular dystrophy (LGMD) have been described.
METHODS
In this study, we assessed the frequency and phenotypic spectrum of LAMA2-related muscular dystrophy in CMD (n = 18) and LGMD2 (n = 128) cohorts identified in the last 15 years in eastern Denmark. The medical history, brain-MRI, muscle pathology, muscle laminin-α2 expression, and genetic analyses were assessed.
RESULTS
Molecular genetics revealed 2 pathogenic LAMA2 mutations in 5 of 18 CMD and 3 of 128 LGMD patients, corresponding to a LAMA2-mutation frequency of 28% in the CMD and 2.3% in the LGMD cohorts, respectively.
CONCLUSIONS
This study demonstrates a wide clinical spectrum of LAMA2-related muscular dystrophy and its prevalence in an LGMD2 cohort, which indicates that LAMA2 muscular dystrophy should be included in the LGMD2 nomenclature.
引言
由LAMA2基因突变引起的肌肉营养不良是一种常染色体隐性疾病，通常表现为严重的早发性先天性肌肉营养不良（CMD）。然而，也有报道称存在症状较轻的肢带型肌肉营养不良（LGMD）病例。
方法
在本研究中，我们评估了丹麦东部过去15年中确定的CMD队列（n = 18）和LGMD2队列（n = 128）中LAMA2相关肌肉营养不良的发生率和表型谱。评估了病史、脑部MRI、肌肉病理学、肌肉层粘连蛋白-α2表达和基因分析。
结果
分子遗传学显示，18例CMD患者中有5例、128例LGMD患者中有3例存在2种致病性LAMA2突变，对应的LAMA2突变频率在CMD队列中为28%，在LGMD队列中为2.3%。
结论
本研究证明了LAMA2相关肌肉营养不良的广泛临床谱及其在LGMD2队列中的患病率，这表明LAMA2肌肉营养不良应纳入LGMD2命名法。
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