Homozygosity for autosomal dominant facioscapulohumeral muscular dystrophy (FSHD) does not result in a more severe phenotype.
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چکیده
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منابع مشابه
Identical de novo mutation at the D4F104S1 locus in monozygotic male twins affected by facioscapulohumeral muscular dystrophy (FSHD) with different clinical expression.
Facioscapulohumeral muscular dystrophy (FSHD) is a progressive hereditary neuromuscular disorder, transmitted in an autosomal dominant fashion. Its clinical expression is highly variable, ranging from almost asymptomatic subjects to wheelchair dependent patients. The molecular defect has been linked to chromosome 4q35 markers and has been related to deletions of tandemly repeated sequences loca...
متن کاملNew Insights into Genotype-phenotype Correlations in Chinese Facioscapulohumeral Muscular Dystrophy: A Retrospective Analysis of 178 Patients
BACKGROUND Facioscapulohumeral muscular dystrophy (FSHD), a common autosomal dominant muscular disorder, is caused by contraction of the D4Z4 repeats on 4q35. The complicated genotype-phenotype correlation among different ethnic population remains a controversial subject. We aimed to refine this correlation in order to provide new information for genetic counseling. METHODS Here, a cohort of ...
متن کاملExpression of DUX4 in zebrafish development recapitulates facioscapulohumeral muscular dystrophy.
Facioscapulohumeral muscular dystrophy (FSHD) is a common form of muscular dystrophy characterized by an asymmetric progressive weakness and wasting of the facial, shoulder and upper arm muscles, frequently accompanied by hearing loss and retinal vasculopathy. FSHD is an autosomal dominant disease linked to chromosome 4q35, but the causative gene remains controversial. DUX4 is a leading candida...
متن کاملFacioscapulohumeral muscular dystrophy and respiratory failure; what about the diaphragm?
INTRODUCTION We present a case of facioscapulohumeral muscular dystrophy (FSHD) with a diaphragm paralysis as the primary cause of ventilatory failure. FSHD is an autosomal dominant inherited disorder with a restricted pattern of weakness. Although respiratory weakness is a relatively unknown in FSHD, it is not uncommon. METHODS We report on the clinical findings of a 68-year old male who pre...
متن کاملRole of Wnt/Β-Catenin Signaling in Regulating the Balance between Oxidative Stress and Apoptosis in Peripheral Blood Mononuclear Cells from Patients with Facioscapulohumeral Muscular Dystrophy
Facioscapulohumeral dystrophy (FSHD) is the third most common type of muscular dystrophy after Duchenne and myotonic dystrophy with an incidence of 12 per 100,000 worldwide [1,2]. FSHD is an autosomal dominant disease with an insidious onset and development, characterized by progressive weakness and atrophy of facial, shoulder girdle and upper arm muscles [1]. Currently FSHD diagnosis is mainly...
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 41 2 شماره
صفحات -
تاریخ انتشار 2004