Abstract:
:It has been suggested that patients with autosomal recessive merosin deficient congenital muscular dystrophy (CMD), as opposed to the merosin positive cases form a homogeneous subgroup of a clinically more severe form of CMD. We examined merosin expression in muscle biopsies from five children with the severe classical form of CMD. Merosin deficiency was found only in 1 patient, a 6-year-old female, with abnormal brain myelination. However, her initial biopsy did not reveal the classical picture of dystrophy. The four merosin positive cases exhibited severe muscle weakness but their brain imagings were normal. There were no familial cases, except for the mother of 1 patient who had a milder form of the disease, suggesting an autosomal dominant mode of inheritance. In contrast to previous reports, the merosin deficient CMD cases were rare in our group. Furthermore, merosin positive cases were also associated with severe phenotype suggesting that a severe phenotype is not exclusive to merosin deficient cases. Finally, the absence of merosin in a neonate with hypotonia and weakness can be helpful in making a definitive diagnosis of CMD, even though the dystrophic process may not be evident yet and histology may be non-specific.
journal_name
Clin Genetjournal_title
Clinical geneticsauthors
Vajsar J,Chitayat D,Becker LE,Ho M,Ben-Zeev B,Jay Vdoi
10.1111/j.1399-0004.1998.tb04283.xsubject
Has Abstractpub_date
1998-09-01 00:00:00pages
193-8issue
3eissn
0009-9163issn
1399-0004journal_volume
54pub_type
杂志文章abstract::A family is presented with hyperexplexia, a rare autosomal dominant neurological disorder. Affected individuals manifest flexor hypertonia and hypokinesia during infancy. Later and throughout life, the condition is characterized by exaggerated involuntary myoclonic startle reactions, which on occasion result in fallin...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1982.tb01393.x
更新日期:1982-06-01 00:00:00
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pub_type: 杂志文章
doi:10.1111/j.1399-0004.1996.tb02627.x
更新日期:1996-10-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
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更新日期:2015-03-01 00:00:00
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pub_type: 杂志文章
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更新日期:2017-08-01 00:00:00
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journal_title:Clinical genetics
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doi:10.1111/j.1399-0004.1996.tb03794.x
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doi:10.1111/j.1399-0004.2010.01375.x
更新日期:2010-09-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1997.tb02481.x
更新日期:1997-05-01 00:00:00
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pub_type: 杂志文章
doi:10.1111/j.1399-0004.1987.tb03339.x
更新日期:1987-08-01 00:00:00
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更新日期:2011-01-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.12759
更新日期:2016-07-01 00:00:00
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pub_type: 杂志文章,评审
doi:10.1034/j.1399-0004.2000.580601.x
更新日期:2000-12-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1996.tb02719.x
更新日期:1996-12-01 00:00:00
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pub_type: 杂志文章
doi:10.1111/j.1399-0004.1992.tb03676.x
更新日期:1992-05-01 00:00:00
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journal_title:Clinical genetics
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更新日期:2001-03-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.12846
更新日期:2017-01-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.2004.00352.x
更新日期:2004-12-01 00:00:00
abstract::Ectodermal dysplasias are a group of genetic disorders defined by ectodermal derivative impairment (EDI). To test the impact of the Wnt/beta-catenin pathway in the genetic screening of EDI, we performed a molecular gene study of WNT10A in 60 subjects from a population of 133 young Italian patients referred for the imp...
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pub_type: 杂志文章
doi:10.1111/cge.13147
更新日期:2018-03-01 00:00:00
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pub_type: 杂志文章
doi:10.1034/j.1399-0004.2002.610210.x
更新日期:2002-02-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1990.tb03602.x
更新日期:1990-11-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1997.tb02511.x
更新日期:1997-07-01 00:00:00
abstract::In 1984, we interviewed 105 Belgian families with a Cystic Fibrosis (CF) child in order to assess the impact of the birth of their CF-child on subsequent family planning and to evaluate their attitudes towards prenatal diagnosis. Three years later, in 1987, they received a mailed questionnaire for an updating of the r...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1990.tb03504.x
更新日期:1990-03-01 00:00:00
abstract::In an ethnically-homogeneous population, it is valuable to identify founder mutations in cancer-predisposing genes. Founder mutations have been found in four breast-cancer-predisposing genes in French-Canadian breast cancer families. The frequencies of the mutant alleles have been measured neither in a large series of...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.2009.01277.x
更新日期:2009-11-01 00:00:00
abstract::Hereditary hair loss in human is a group of clinically and genetically heterogeneous disorders. It is characterized by sparse to complete absence of hair on the scalp and other parts of the body. In few cases tightly curled twisted wooly hair (WH) on the scalp has been reported as well. The hair loss disorders, includ...
journal_title:Clinical genetics
pub_type: 杂志文章,评审
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更新日期:2015-09-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.12804
更新日期:2017-07-01 00:00:00
abstract::A deletion of 7q21.2-q22.1 has been found in a patient with split foot and developmental retardation. Molecular analysis using polymerase chain reaction (PCR) showed deletion of three microsatellite markers, D7S527, D7S479 and D7S554, in the patient's paternal chromosome. These results pinpoint the critical region for...
journal_title:Clinical genetics
pub_type: 杂志文章,评审
doi:10.1111/j.1399-0004.1995.tb03930.x
更新日期:1995-02-01 00:00:00
abstract::The advent of whole-exome next-generation sequencing (WES) has been pivotal for the molecular characterization of Mendelian disease; however, the clinical applicability of WES has remained relatively unexplored. We describe our exploration of WES as a diagnostic tool in a 3½-year old female patient with a 2-year histo...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.2012.01951.x
更新日期:2013-05-01 00:00:00
abstract::Ciliopathies, a growing pleotropic class of diseases due to mutations in genes that play an important role in primary cilia function. These highly conserved organelles are key to cell signaling. We now know, that mutations in one gene may lead to more than one ciliopathy phenotype and that one ciliopathy phenotype may...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.13408
更新日期:2018-10-01 00:00:00
abstract::A new modification of currently utilized methods of processing cell cultures of whole peripheral blood for obtaining chromosome preparations necessary for differential staining (Q, G and C) is proposed. After the usual hypotonic treatment of cultures, a 3%-5% aquaeous solution of glacial acetic acid is added to the ce...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1983.tb00077.x
更新日期:1983-10-01 00:00:00
abstract::In situ hybridization was used to characterize an undetected chromosome translocation in a child whose metaphase chromosome analysis in peripheral blood and in skin culture revealed apparent monosomy 21. The cytogenetic study revealed 45 chromosomes, and no other structural anomalies were detected with G banding. In s...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1993.tb04457.x
更新日期:1993-02-01 00:00:00