1,721,014 research outputs found
Esterase-6 allozymes: Biochemical studies of two common and one rare variant in Drosophila melanogaster
No full textDuchenne muscular dystrophy. A genetic and epidemiologicalò study carried out in the province of Verona.
No full textGenetic epidemiology of hereditary motor sensory neuropathies (type I).
No full textPatients 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
Frequency of duplication at 17p11.2 in families of northeast Italy with Charcot-Marie-Tooth disease type 1.
No full textCharcot-Marie-Tooth disease type 1 (CMT 1) is the most common form of the hereditary motor sensory neuropathies (HMSN) with a prevalence in the Italian population of 9.4/100,000 inhabitants. CMT 1 is a genetically heterogeneous disorder. Forty CMT 1 families (35 with recurrence of cases and 5 sporadic cases) living in northeastern Italy were analyzed with the probe pVAW409R3 to reveal the presence of 17p11.2 duplication. The duplication frequency that resulted was about 82% and not significantly different in familial and in sporadic cases (p = 0.801). This kind of molecular analysis can be very useful for the differential diagnosis of CMT 1 and for the early diagnosis in the absence of a clear clinical manifestation
Population data on benign and severe forms of X-linked muscular dystrophy.
No full textEpidemiological 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 DM
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