LGMD D3 型肌营养不良症的呼吸肌受累：首例意大利患者的广泛临床描述。
Respiratory muscle involvement in LGMD D3 muscular dystrophy: an extensive clinical description of the first Italian patient.
机构信息
Neurology Department, Centre de Référence Maladies Neuromusculaires Nord-Est-Ile-de-France, CHU Raymond-Poincaré, Garches, France; U1179 UVSQ-INSERM Handicap Neuromusculaire: Physiologie, Biothérapie et Pharmacologie appliquées, UFR des sciences de la santé Simone Veil, Université Versailles-Saint-Quentin-en-Yvelines, France.
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris, Calambrone, Pisa, Italy.
出版信息
Acta Myol. 2020 Jun 1;39(2):98-100. doi: 10.36185/2532-1900-013. eCollection 2020 Jun.
Limb girdle muscular dystrophy is a genetically inherited condition that primarily affects skeletal muscle leading to progressive, predominantly proximal muscle weakness at presentation. Autosomal dominant LGMD represent 10% of all LGMDs. -related muscular dystrophy, LGMD1G/LGMD D3 (MIM#609115), is an extremely rare autosomal dominant adult onset myopathy described in a handful of families. Here we fully characterized the muscular and respiratory involvement of a 58 years old Italian woman presenting the previously reported pathogenic variant c.1132G > C p.(Asp378Asn) in the gene.
肢带型肌营养不良症是一种遗传性疾病，主要影响骨骼肌，导致在发病时出现进行性、主要是近端肌肉无力。常染色体显性遗传型肢带型肌营养不良症占所有肢带型肌营养不良症的 10%。LGMD1G/LGMD D3（MIM#609115）与肌营养不良相关，是一种极为罕见的常染色体显性遗传成人起病肌病，在少数几个家族中有描述。在这里，我们全面描述了一位 58 岁意大利女性的肌肉和呼吸受累情况，该患者携带先前报道的致病性变异 c.1132G > C p.（Asp378Asn）在基因中。
Zotero 插件