CLINICAL AND MOLECULAR CHARACTERIZATION OF LIMB-GIRDLE MUSCULAR DYSTROPHY DUE TO LAMA2 MUTATIONS

被引：47

作者：

Gavassini, Bruno F. ^{[1
]}

Carboni, Nicola ^{[2
]}

Nielsen, Jorgen E. ^{[3
,4
]}

Danielsen, Else R. ^{[5
]}

Thomsen, Carsten ^{[5
]}

Svenstrup, Kirsten ^{[3
,4
]}

Bello, Luca ^{[1
]}

Maioli, Maria Antonietta ^{[2
]}

Marrosu, Giovanni ^{[2
]}

Ticca, Anna Filomena ^{[6
]}

Mura, Marco ^{[2
]}

Marrosu, Maria Giovanna ^{[2
]}

Soraru, Gianni ^{[1
]}

Angelini, Corrado ^{[1
,7
]}

Vissing, John ^{[8
,9
]}

Pegoraro, Elena ^{[1
]}

机构：

[1] Univ Padua, Neuromuscular Ctr, Dept Neurosci, I-35128 Padua, Italy

[2] Univ Cagliari, Dept Cardiol & Neurol Sci, Cagliari, Italy

[3] Univ Copenhagen, Neurogenet Sect, Dept Cellular & Mol Med, Copenhagen, Denmark

[4] Univ Copenhagen Hosp, Neurogenet Clin, Rigshosp, DK-2100 Copenhagen, Denmark

[5] Univ Copenhagen Hosp, Dept Radiol, Rigshosp, DK-2100 Copenhagen, Denmark

[6] S Francesco Hosp, Dept Neurol, Nuoro, Italy

[7] IRCCS San Camillo, Venice, Italy

[8] Univ Copenhagen, Rigshosp, Neuromuscular Res Unit, DK-2100 Copenhagen, Denmark

[9] Univ Copenhagen, Rigshosp, Dept Neurol, DK-2100 Copenhagen, Denmark

来源：

MUSCLE & NERVE | 2011年 / 44卷 / 05期

关键词：

brain MRI; congenital muscular dystrophy; LAMA2; laminin alpha 2; limb-girdle muscular dystrophy; LAMININ ALPHA-2 CHAIN; BASEMENT-MEMBRANES; MEROSIN DEFICIENCY; WHITE-MATTER; MUSCLE; GENE; NEUROPATHY; EXPRESSION; PHENOTYPE;

D O I：

10.1002/mus.22132

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

100204 [神经病学];

摘要：

INTRODUCTION: In this study we describe the clinical and molecular characteristics of limb-girdle muscular dystrophy (LGMD) due to LAMA2 mutations. METHODS: Five patients clinically diagnosed with LGMD and showing brain white matter hyperintensities on MRI were evaluated using laminin alpha 2 genetic and protein testing. RESULTS: The patients had slowly progressive, mild muscular dystrophy with various degrees of CNS involvement. Epilepsy was observed in 2, and subtle symptoms of CNS involvement (mild deficit in executive functions and low IQ scores) were noted in 3 patients. Novel LAMA2 mutations were identified in all patients. The amount of laminin alpha 2 protein in the muscle biopsies ranged from trace to about 50% compared with controls. CONCLUSIONS: This study represents the largest series of LGMD laminin alpha 2-deficient patients and expands the clinical phenotype associated with LAMA2 mutations. The findings suggest that brain MRI could be included in the diagnostic work-up of patients with undiagnosed LGMD. Muscle Nerve 44: 703-709, 2011

引用

页码：703 / 709

页数：7

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