Manouvrier J, Leys D, Ducloux G, Devillers M, Krivosic I, Soots G, Dalle B, Caron C
Ann Cardiol Angeiol (Paris). 1986 Nov;35(9):557-9.
The authors report the case of a primary myocardiopathy of the young adult, related in fact to a rare muscular congenital disease: centro-nuclear myopathy. The case is different from the classic picture in that it is revealed late, by its cardiac manifestations which dominate the clinical picture and lead to an irreducible cardiac insufficiency requiring a heart transplant. Only a muscular biopsy with histological and histo chemical study permits to make the diagnosis, while the lesions of the myocardium are non-specific.
作者报告了一例年轻成人原发性心肌病病例，实际上与一种罕见的肌肉先天性疾病有关：中央核性肌病。该病例与典型表现不同，其发病较晚，以心脏表现为主导临床症状，并导致不可逆转的心衰，需要进行心脏移植。只有通过肌肉活检及组织学和组织化学研究才能做出诊断，而心肌病变是非特异性的。
