Abstract:
:We report studies on two patients (a mother and her daughter) presenting with a Charcot-Marie-Tooth type 1 (CMT1) phenotype: low nerve conduction velocities of 13-15 m/s and an early onset at the age of walking. DNA analysis of the gene coding for the major peripheral myelin protein PO showed a new point mutation in exon 2, which resulted in substitution of a phenylalanine for serine at amino acid position 63 of PO. This is the third mutation reported at this codon, the two previously described leading to CMT1B (serine 63 deletion), or to Dejerine-Sottas disease (cysteine for serine 63 substitution), suggesting that different phenotypes can result from alteration of a single amino acid, depending on the type of the change involved.
journal_name
Clin Genetjournal_title
Clinical geneticsauthors
Blanquet-Grossard F,Pham-Dinh D,Dautigny A,Latour P,Bonnebouche C,Corbillon E,Chazot G,Vandenberghe Adoi
10.1111/j.1399-0004.1995.tb04109.xsubject
Has Abstractpub_date
1995-12-01 00:00:00pages
281-3issue
6eissn
0009-9163issn
1399-0004journal_volume
48pub_type
杂志文章abstract::Acetylation is one of the major routes in metabolism and detoxification of a large number of drugs, chemicals and carcinogens. Slow acetylators are said to be more susceptible to developing bladder cancer and because of investigations about tumor risk based on phenotyping procedures, it was our aim to study the distri...
journal_title:Clinical genetics
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abstract::Missense MECP2 variants can have various phenotypic effects ranging from a normal phenotype to typical Rett syndrome (RTT). In females, the phenotype can also be influenced by the X-inactivation pattern. In this study, we present detailed clinical descriptions of six patients with a rare base-pair substitution affecti...
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journal_title:Clinical genetics
pub_type: 杂志文章
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更新日期:1975-05-01 00:00:00
abstract::Fabry disease (FD) is an X-linked lysosomal storage disorder (LSD) caused by the deficiency of the enzyme α-galactosidase. It exhibits a wide clinical spectrum that may lead to a delayed or even missed diagnosis and the real incidence can be underestimated. We report the cases of two unrelated Italian families in whom...
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journal_title:Clinical genetics
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journal_title:Clinical genetics
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更新日期:2015-07-01 00:00:00
abstract::Lipoprotein(a) [Lp(a)] is an important genetic trait associated with cardiovascular disease. While Lp(a) levels have been demonstrated to be approximately twice as high in black adults and children compared with whites, this relationship has not been assessed in the elderly. During the 1987 recall of the Charleston He...
journal_title:Clinical genetics
pub_type: 杂志文章
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更新日期:1993-11-01 00:00:00
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journal_title:Clinical genetics
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更新日期:2000-08-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
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journal_title:Clinical genetics
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更新日期:2005-01-01 00:00:00
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journal_title:Clinical genetics
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:
更新日期:1981-08-01 00:00:00
abstract::Congenital insensitivity to pain with anhidrosis (CIPA) or hereditary sensory and autonomic neuropathy type IV is a rare, autosomal recessive neurologic disorder, characterized by absence of reaction to painful stimuli, mental retardation, self- mutilating behavior, anhidrosis, and recurrent episodes of hyperthermia. ...
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abstract::In a study of 95 presumably healthy, 40-42-year old males from Northen Sweden, the Lp(a) phenotype distribution differed between those who had, and those who did not have one or more close relatives (parent or sib) with coronary heart disease. In the former group, 60% of the males were Lp(a+), as opposed to 28% in the...
journal_title:Clinical genetics
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更新日期:1979-11-01 00:00:00
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更新日期:2021-02-01 00:00:00