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A wide spectrum of clinical and brain MRI findings in patients with SLC19A3 mutations
BackgroundSLC19A3 (solute carrier family 19, member 3) is a thiamin transporter with 12 transmembrane domains. Homozygous or compound heterozygous mutations in SLC19A3 cause two distinct clinicalExpand
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Novel 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 combinationExpand
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Phenotypic Spectrum of COL4A1 Mutations: Porencephaly to Schizencephaly
Recently, COL4A1 mutations have been reported in porencephaly and other cerebral vascular diseases, often associated with ocular, renal, and muscular features. In this study, we aimed to clarify theExpand
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Nonsense and frameshift mutations in ZFHX1B, encoding Smad-interacting protein 1, cause a complex developmental disorder with a great variety of clinical features.
Mutations in ZFHX1B, encoding Smad-interacting protein 1 (SIP1), have been recently reported to cause a form of Hirschsprung disease (HSCR). Patients with ZFHX1B deficiency typically show mentalExpand
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Refined mapping of a gene responsible for Fukuyama-type congenital muscular dystrophy: evidence for strong linkage disequilibrium.
Fukuyama-type congenital muscular dystrophy (FCMD), the second most common form of childhood muscular dystrophy in Japan, is an autosomal recessive severe muscular dystrophy associated with anExpand
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SIL1, a causative cochaperone gene of Marinesco-Sjögren syndrome, plays an essential role in establishing the architecture of the developing cerebral cortex
Marinesco‐Sjögren syndrome (MSS) is a rare autosomal recessively inherited disorder with mental retardation (MR). Recently, mutations in the SIL1 gene, encoding a co‐chaperone which regulates theExpand
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Clinical and genomic characterization of siblings with a distal duplication of chromosome 9q (9q34.1‐qter)
We report herein on two female siblings exhibiting mild intellectual disability, hypotonia in infancy, postnatal growth retardation, characteristic appearance of the face, fingers, and toes. TheirExpand
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Duchenne dystrophy
Using freeze-fracture, we analyzed the density of orthogonal arrays and subunit particles in muscle plasma membrane of six patients with Duchenne muscular dystrophy and six control boys. The groupExpand
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Dystrophin immunostaining and freeze-fracture studies of muscles of patients with early stage amyotrophic lateral sclerosis and Duchenne muscular dystrophy
We used polyclonal antibodies against dystrophin for the immunohistochemical localization of this protein in human skeletal muscle. Dystrophin was localized in the sarcolemma of the myofibers in 8Expand
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Founder-haplotype analysis in Fukuyama-type congenital muscular dystrophy (FCMD)
Abstract Fukuyama-type congenital muscular dystrophy (FCMD) is an autosomal recessive, severe muscular dystrophy associated with brain anomalies. After our initial mapping of the FCMD locus toExpand
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