PubMed Health⌕ Search

Biomedical subjects

M L Mostacciuolo

Publications and source records attributed to M L Mostacciuolo.

51 records · Page 3Linked to original sources
PubMed1992

Screening for mutations in the muscle promoter region and for exonic deletions in a series of 115 DMD and BMD patients.

Mutations in the muscle promoter region and exonic deletions were screened in a series of 115 unrelated DMD and BMD patients from north-east Italy. No gross mutations of the promoter region were found. In three cases in which dystrophin of normal size was expressed at low levels, the analysis of DNA sequences of the promoter region failed to detect abnormalities. The majority of deletions in coding sequences, detected by cDNA probes, occur in the deletion hot spot identified by the probe P20. Intrafamilial variability in the severity of the disease is reported and discussed.

Adolescent↗
PubMed1992

Epidemiology of spinal muscular atrophies in a sample of the Italian population.

In the course of an epidemiological survey in four provinces of Veneto (northeastern Italy) 67 spinal muscular atrophy (SMA) cases (types I, II and III) were recorded. The survey spanned the period 1960-1983 and involved 859,891 consecutive live-born infants in a population of 2,635,800 inhabitants. The overall prevalence at birth for SMA types I, II and III was 7.8/100,000 live births. Type I alone accounted for 4.1/100,000 live births. If the hypothesis that SMA types I, II and III are clinical manifestations of allelic mutations is assumed, the mutation rate would be about 70 x 10(-6) and the frequency of the heterozygotes 1 in 57.

Female↗
PubMed1991

Genetic epidemiology of hereditary motor sensory neuropathies (type I).

Patients affected with hereditary motor sensory neuropathy (HMNS) type I were traced through hospital records. Each case was re-examined, a family history was drawn, and EMG examination was performed in those members of the family who could have inherited the trait. In the prevalence year 1987, in a population of 1,067,130 inhabitants of 2 contiguous provinces of northeast Italy, 100 living cases were recorded in 30 families, giving a minimal prevalence rate estimate of 9.37/100,000. HMSN I is inherited as an autosomal dominant trait, when clinical evaluation includes EMG. No difference may be established clinically between the 2 subtypes (Ia, linked to chromosome 1 and Ib, linked to chromosome 17). Sporadic cases are very rare and the mutation rate, including both the subtypes, is estimated between 3 and 6 X 10(-6).

Charcot-Marie-Tooth Disease↗
PubMed1991

X-linked Charcot-Marie-Tooth disease. A linkage study in a large family by using 12 probes of the pericentromeric region.

Linkage analysis was performed on 41 subjects belonging to a large family with a recurrence of X-linked Charcot-Marie-Tooth disease (CMTX), by using 12 restriction fragment length polymorphism markers mapping in p11-q13. The results are in agreement with previous linkage data. Three new markers that are potentially useful for genetic analysis of CMTX families are described. A more precise estimate of the localization of the disease locus was attempted by multipoint linkage analysis.

Blotting, Southern↗
PubMed1989

Problems in genetic counseling in a family with an "atypical" centronuclear myopathy.

Genetic counseling often deals with a rare disease the inheritance of which is not clearly established or in which genetic heterogeneity is reported. In addition, relevant parameters such as penetrance, gene frequency, and mutation rate may not be available. In this situation, establishing the risk may be very difficult. An example is presented in which Bayesian risk calculation proved to be of great help in providing precise risk estimates in a family in which an "atypical" centronuclear myopathy was segregating.

Adult↗
PubMed1987

Genetic epidemiology of myotonic dystrophy.

Prevalence rate of myotonic dystrophy (DM) was estimated in a large sample of the Italian population. Segregation analysis of the affected families suggests that subjects showing minor clinical signs, even in the absence of myotonic features, should be considered as bearers of the DM trait. An apparent excess of normal sibs among the offspring of DM subjects may be due to the late onset of the disease and possibly to a partial loss of affected individuals from the sample before diagnosis. Prevalence rate of DM in this study is estimated between 69 to 90 per million inhabitants; accordingly, DM might be the most frequent inherited neuromuscular disorder in human populations.

Adult↗
PubMed1987

Population data on benign and severe forms of X-linked muscular dystrophy.

Epidemiological data on Becker muscular dystrophy (BMD) and Duchenne muscular dystrophy (DMD) from a large sample of the Italian population are reported. For BMD the incidence rate was found to be 5.5 X 10(-5) live-born males (lbm) and the prevalence rate, 13.1 X 10(-6); the mutation rate was estimated to be about 6.0 X 10(-6). For DMD the incidence and prevalence rates were found to be respectively 26 X 10(-5) lbm and 31.6 X 10(-6). The DMD mutation rate obtained by the Haldane formula was 86.6 X 10(-6) and by the semi-direct method, 65.6 X 10(-6). The results are discussed in the light of possible allelism of BMD and DMD.

Adult↗
PubMed1987

Sporadic cases in Duchenne muscular dystrophy. A reappraisal through segregation analysis on 988 sibships.

A new estimation of the proportion of sporadic cases in Duchenne muscular dystrophy was attempted by means of segregation analysis in a sample of 988 sibships collected on a world-wide scale by different authors. Maximum likelihood estimates of ascertainment probability (pi), segregation frequency (p), and frequency of sporadic cases (x) were calculated by Morton's equations under different hypotheses. The best fit was found for p = 0.454 +/- 0.024 and x = 0.235 +/- 0.034. The possibility that the proportion of sporadic cases might be lower than the expected 1/3 is suggested.

Gene Frequency↗
PubMed1980

Duchenne muscular dystrophy: data from family studies.

In an extensive epidemiological survey of Duchenne muscular dystrophy carried out in Venetia (Italy) the incidence was found to be 28.2 X 10(-5) and female gamete mutation rate was estimated by the direct method between 61 and 35 X 10(-6). The percentage of isolated cases was 0.54. Indirect and direct estimates of this proportion suggest, however, that only a minor fraction arises from maternal mutation (from 0.11 to 0.18 of the total number of cases). Studies on pedigrees collected in the course of the survey indicate that there is a higher frequency of Duchenne carrier females than normal females in affected sibships. Additional evidence supporting the hypothesis of a reproductive heterozygote advantage and gametic selection is reported.

Female↗
PubMed1977

Duchenne muscular dystrophy. A population study.

By a general survey in the hopitals of northeast Italy, Duchenne cases have been located and identified over a 20-year period. In a more restricted area screening for Duchenne carriers has been carried out in affected families. This procedure made possible an exact estimate of the incidence rate, prevalence rate, and mutation rate in a large sample of population. Prevalence rate was found to be 34x10(-6), incidence rate about 28x10(-5), while mutation rate was found lower than 50x10(-6) by the direct method. The discrepancy between the results obtained by the Haldane formula and those obtained by the direct method for the estimate of the mutation rate is discussed.

Female↗