Muscular dystrophy with arrhythmia caused by loss-of-function mutations in BVES
نویسندگان
چکیده
منابع مشابه
Beneficial metabolic phenotypes caused by loss-of-function APOC3 mutations.
1. Gagné SE, Larson MG, Pimstone SN et al. A common truncation variant of lipoprotein lipase (Ser447X) confers protection against coronary heart disease: the Framingham Offspring Study. Clin Genet 1999: 55 (6): 450–454. 2. Cohen JC, Boerwinkle E, Mosley TH Jr, Hobbs HH. Sequence variations inPCSK9, low LDL, and protection against coronary heart disease. N Engl J Med 2006: 354 (12): 1264–1272. 3...
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Ullrich syndrome is a recessive congenital muscular dystrophy affecting connective tissue and muscle. The molecular basis is unknown. Reverse transcription-PCR amplification performed on RNA extracted from fibroblasts or muscle of three Ullrich patients followed by heteroduplex analysis displayed heteroduplexes in one of the three genes coding for collagen type VI (COL6). In patient A, we detec...
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Facioscapulohumeral muscular dystrophy (FSHD) has an estimated prevalence of 4–7 per 100,000 population, making it the third most common type of muscular dystrophy. The classic form of FSHD is characterized by weakness that is slowly progressive and often asymmetric in the face, scapulae, upper arms, lower legs, and abdomen. The age at onset of symptoms varies from infancy to middle age, and li...
متن کاملFacioscapulohumeral muscular dystrophy and occurrence of heart arrhythmia.
BACKGROUND Subjects with facioscapulohumeral muscular dystrophy (FSHD) do not generally suffer from significant cardiac symptoms. Although with heterogeneous results, studies reported to date indicate that heart alterations unrelated to cardiomyopathy are possible in FSHD. PATIENTS AND METHODS We describe the findings of a multicenter investigation aimed at detecting cardiac abnormalities in ...
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ژورنال
عنوان ژورنال: Neurology Genetics
سال: 2019
ISSN: 2376-7839
DOI: 10.1212/nxg.0000000000000321