title: [A case of limb-girdle muscular dystrophy 2M diagnosed by the occurence of dilated cardiomyopathy].
abstract: We report a 24-year-old Japanese man initially suspected to have Becker's muscular dystrophy at the age of 6 years, because of a high level of creatine kinase in serum, though he discontinued visiting the hospital. At the age of 23, he was admitted to the hospital for severe dilated cardiomyopathy, and subsequently diagnosed with limb-girdle muscular dystrophy2M (LGMD2M) based on muscle biopsy and gene analysis. It was recently reported that some patients with fukutinopathy develop LGMD. Most of the cases reported in Japan showed mild skeletal muscle involvement despite serious cardiomyopathy, which may sometimes the initial symptom of the disease. Since muscular dystrophy patients can develop severe cardiac failure, irrespective of the severity of skeletal muscle involvement, regular examinations of cardiopulmonary function are necessary.
authors.affiliation: Department of Neurology, National Hospital Organization Toneyama National Hospital.
authors.forename: Misa
authors.initials: M
authors.lastname: Matsui
authors.forename: Takuyuki
authors.initials: T
authors.lastname: Endo
authors.forename: Tsuyoshi
authors.initials: T
authors.lastname: Matsumura
authors.forename: Toshio
authors.initials: T
authors.lastname: Saito
authors.forename: Harutoshi
authors.initials: H
authors.lastname: Fujimura
mesh_terms: D002311:Cardiomyopathy, Dilated / Q000150:complications* / Q000235:genetics; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D049288:Muscular Dystrophies, Limb-Girdle / Q000175:diagnosis* / Q000235:genetics; D055815:Young Adult
chemical_list: C113587:FKTN protein, human; D008565:Membrane Proteins