Cardiac function in patients with Fukuyama-type congenital muscular dystrophy
نویسندگان
چکیده
منابع مشابه
Brain MR in Fukuyama congenital muscular dystrophy.
PURPOSE To determine the MR characteristics of brain abnormalities in Fukuyama congenital muscular dystrophy (FCMD). METHODS We reviewed 30 MR examinations of 21 patients with FCMD to assess cerebral and cerebellar cortical dysplasia, white matter changes, and miscellaneous abnormalities. RESULTS On MR images, all patients had thick and bumpy cortices with shallow sulci corresponding to pol...
متن کاملCongenital muscular dystrophy with characteristic radiological findings similar to those with Fukuyama congenital muscular dystrophy.
Fukuyama congenital muscular dystrophy (FCMD) is the most common congenital muscular dystrophy in Japan and there are isolated reports of non-Japanese patients with FCMD. We report an Indian patient with congenital muscular dystrophy and characteristic radiological findings similar to those with FCMD.
متن کاملNovel mutations and genotype-phenotype relationships in 107 families with Fukuyama-type congenital muscular dystrophy (FCMD).
Fukuyama-type congenital muscular dystrophy (FCMD), one of the most common autosomal recessive disorders in the Japanese population, is characterized by congenital muscular dystrophy in combination with cortical dysgenesis (micropolygyria). Recently, we identified, on chromosome 9q31, the gene responsible for FCMD, which encodes a novel 461 amino acid protein which we have termed fukutin. Most ...
متن کاملMR Imaging of Fukuyama Congenital Muscular Dystrophy: A Case Report
a genetic disease with an autosomal recessive mode of inheritance (1, 2). It is most common in Japanese patients and is the second most common form of muscular dystrophy in Japan, after Duchenne muscular dystrophy (2). FCMD causes severe mental retardation, seizures, muscular weakness soon after birth, and pathologic muscular changes that are consistent with muscular dystrophy. The typical clin...
متن کاملLeft ventriculoplasty for dilated cardiomyopathy in Fukuyama-type muscular dystrophy.
A 29-year-old man was hospitalized because of heart failure causing dilated cardiomyopathy (DCM). On admission, he had elevated creatinine kinase levels (hyper CKemia) (4283IUl⁻) and false enlargement of bilateral calves. By a muscular biopsy, he was diagnosed as Fukuyama-type muscular dystrophy. Although neuromuscular diseases are often related to cardiomyopathy, reports showing a relation bet...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Journal of the American College of Cardiology
سال: 2003
ISSN: 0735-1097
DOI: 10.1016/s0735-1097(03)81792-8