Rippling muscle disease and facioscapulohumeral dystrophy-like phenotype in a patient carrying a heterozygous CAV3 T78M mutation and a D4Z4 partial deletion: Further evidence for "double trouble" overlapping syndromes.
Rippling muscle disease and facioscapulohumeral dystrophy-like phenotype in a patient carrying a heterozygous CAV3 T78M mutation and a D4Z4 partial deletion: Further evidence for "double trouble" overlapping syndromes.
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DOI：
10.1016/j.nmd.2011.12.001
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发表时间：
2012-06
影响因子：
2.8
通讯作者：
Siciliano, Gabriele
中科院分区：
文献类型：
--
作者：
Ricci, Giulia;Scionti, Isabella;Ali, Greta;Volpi, Leda;Zampa, Virna;Fanin, Marina;Angelini, Corrado;Politano, Luisa;Tupler, Rossella;Siciliano, Gabriele
关键词：
我们报告了第一例与波纹肌疾病和近端肌病相关的小窝蛋白-3基因(CAV3)杂合子T78M突变。患者还表现为双侧翼状肩胛骨，上臂外展有限，磁共振成像显示腿部肌肉明显不对称萎缩。患者肌肉活检的免疫组织化学显示小窝蛋白-3染色减少，与小窝病变的诊断相一致。有趣的是，与可能的FSHD诊断一致，患者在染色体4q35上携带了35kb的D4Z4等位基因。我们讨论了这两个基因突变可能在决定该患者的表型方面发挥协同作用的假设。
We report the first case of a heterozygous T78M mutation in the caveolin-3 gene (CAV3) associated with rippling muscle disease and proximal myopathy. The patient displayed also bilateral winged scapula with limited abduction of upper arms and marked asymmetric atrophy of leg muscles shown by magnetic resonance imaging. Immunohistochemistry on the patient’s muscle biopsy demonstrated a reduction of caveolin-3 staining, compatible with the diagnosis of caveolinopathy. Interestingly, consistent with the possible diagnosis of FSHD, the patient carried a 35 kb D4Z4 allele on chromosome 4q35. We discuss the hypothesis that the two genetic mutations may exert a synergistic effect in determining the phenotype observed in this patient.
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影响因子：
2.9
作者：
Chuenkongkaew, WL;Suphavilai, R;Suktitipat, B
通讯作者：
Suktitipat, B
影响因子：
2.8
作者：
Filosto, Massimiliano;Tonin, Paola;Tornelleri, Giuliano
通讯作者：
Tornelleri, Giuliano
DOI：
10.1097/00004356-198406000-00005
发表时间：
1984-01-01
影响因子：
1.7
作者：
JOHN, J
通讯作者：
JOHN, J
影响因子：
3.4
作者：
Fee, DB;So, YT;Pulst, SM
通讯作者：
Pulst, SM
影响因子：
4.8
作者：
Fitzsimons, RB
通讯作者：
Fitzsimons, RB