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Literature DB >> 1487234

Further evidence of a duplication in 17p11.2 in families with recurrence of HMSN Ia (Charcot-Marie-Tooth neuropathy type Ia).

E Müller¹, M L Mostacciuolo, G Micaglio, C Angelini, G A Danieli.

Abstract

Five Italian families with recurrence of cases of Charcot-Marie-Tooth disease (type Ia) were analysed using three closely linked DNA probes that detect polymorphisms in the region 17p11.2. The probe pVAW409R3 detected the presence of a duplication in all the affected subjects, but not in the subjects with normal electromyographic (EMG) findings. This observation confirms previous data indicating the association of the duplication with the disease, suggesting that, at least in populations of European origin, the duplication might be the molecular feature diagnostic of the pathological trait.

Entities: Chemical

Mesh：

Year: 1992 PMID： 1487234 DOI： 10.1007/BF00220067

Source DB: PubMed Journal: Hum Genet ISSN： 0340-6717 Impact factor: 4.132

15 in total

1. Genetic linkage and heterogeneity in type I Charcot-Marie-Tooth disease (hereditary motor and sensory neuropathy type I).

Authors: P F Chance; T D Bird; P O'Connell; H Lipe; J M Lalouel; M Leppert
Journal: Am J Hum Genet Date: 1990-12 Impact factor: 11.025

2. Genetic affinities of Jewish populations.

Authors: G Livshits; R R Sokal; E Kobyliansky
Journal: Am J Hum Genet Date: 1991-07 Impact factor: 11.025

3. Heterogeneity of Charcot-Marie-Tooth disease suggested by a linkage study.

Authors: G Micaglio; P Fardin; M Battilana; A Lombardi; M L Mostacciuolo; G A Danieli; C Angelini
Journal: Adv Neurol Date: 1988

4. Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. I. Neurologic, genetic, and electrophysiologic findings in hereditary polyneuropathies.

Authors: P J Dyck; E H Lambert
Journal: Arch Neurol Date: 1968-06

2. Molecular diagnosis of hereditary neuropathy with liability to pressure palsies (HNPP) by detection of 17p11.2 deletion in Italian patients.

Authors: P Mandich; R James; S Nassani; R Defferrari; E Bellone; G Mancardi; A Schenone; M Abbruzzese; M Rocchi; F Ajmar
Journal: J Neurol Date: 1995-05 Impact factor: 4.849

2 in total

Further evidence of a duplication in 17p11.2 in families with recurrence of HMSN Ia (Charcot-Marie-Tooth neuropathy type Ia).

1. Genetic linkage and heterogeneity in type I Charcot-Marie-Tooth disease (hereditary motor and sensory neuropathy type I).

2. Genetic affinities of Jewish populations.

3. Heterogeneity of Charcot-Marie-Tooth disease suggested by a linkage study.

4. Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. I. Neurologic, genetic, and electrophysiologic findings in hereditary polyneuropathies.

5. DNA duplication associated with Charcot-Marie-Tooth disease type 1A.

6. Linkage of Charcot-Marie-Tooth neuropathy type 1a to chromosome 17.

7. Evidence for linkage of Charcot-Marie-Tooth neuropathy to the Duffy locus on chromosome 1.

8. Hereditary motor and sensory neuropathies in Swedish children. I. Prevalence and distribution by disability groups.

9. Prevalence of hereditary motor and sensory neuropathy in Cantabria.

10. A family study of Charcot-Marie-Tooth disease.

1. Non-radioactive detection of 17p11.2 duplication in CMT1A: a study of 78 patients.

2. Molecular diagnosis of hereditary neuropathy with liability to pressure palsies (HNPP) by detection of 17p11.2 deletion in Italian patients.