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FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit.
Facioscapulohumeral muscular dystrophy (FSHD) is a neuromuscular disorder characterized by progressive weakness of the facial, shoulder and upper arm muscles. The disease is associated with DNAExpand
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Nucleotide sequence of the partially deleted D4Z4 locus in a patient with FSHD identifies a putative gene within each 3.3 kb element.
Facioscapulohumeral muscular dystrophy (FSHD) is linked to the polymorphic D4Z4 locus on chromosome 4q35. In non-affected individuals, this locus comprises 10-100 tandem copies of members of theExpand
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Delayed cerebral edema and fatal coma after minor head trauma: Role of the CACNA1A calcium channel subunit gene and relationship with familial hemiplegic migraine
Trivial head trauma may be complicated by severe, sometimes even fatal, cerebral edema and coma occurring after a lucid interval (“delayed cerebral edema”). Attacks of familial hemiplegic migraineExpand
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Identification of the first gene (FRG1) from the FSHD region on human chromosome 4q35.
Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant, neuromuscular disorder characterized by progressive weakness of muscles in the face, shoulder and upper arm. Deletion ofExpand
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Localization of a gene for Möbius syndrome to chromosome 3q by linkage analysis in a Dutch family.
Möbius syndrome (MIM no. 157900) consists of a congenital paresis or paralysis of the VIIth cranial nerve, frequently accompanied by paralysis of other cranial nerves, orofacial and limbExpand
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On the significance of retinal vascular disease and hearing loss in facioscapulohumeral muscular dystrophy
We have performed retinal fluorescein angiography and audiometry in 32 familial and 7 sporadic cases of facioscapulohumeral muscular dystrophy. A mild to moderate retinal vasculopathy, consisting ofExpand
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Linkage of autosomal dominant hearing loss to the short arm of chromosome 1 in two families.
BACKGROUND At least half of the cases of profound deafness of early onset are caused by genetic factors, but few of the genetic defects have been identified. This is particularly true of the mostExpand
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FRG2, an FSHD candidate gene, is transcriptionally upregulated in differentiating primary myoblast cultures of FSHD patients
Background: Autosomal dominant facioscapulohumeral muscular dystrophy (FSHD) is associated with partial deletion of the subtelomeric D4Z4 repeat array on chromosome 4qter. This chromosomalExpand
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Facioscapulohumeral muscular dystrophy in early childhood.
OBJECTIVE To determine the occurrence and the clinical and genetic variability of early-onset facioscapulohumeral muscular dystrophy (FSHD). DESIGN Patients were derived from a large series ofExpand
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Involvement of the CACNA1A gene containing region on 19p13 in migraine with and without aura
Objective: To assess the involvement of the 19p13 familial hemiplegic migraine (FHM) locus in migraine with and without aura. Background: Migraine with and without aura are likely to be polygeneticExpand
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