Tags

Type your tag names separated by a space and hit enter

Further evidence of a duplication in 17p11.2 in families with recurrence of HMSN Ia (Charcot-Marie-Tooth neuropathy type Ia).
Hum Genet. 1992 Nov; 90(3):231-4.HG

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.

Authors+Show Affiliations

Dipartimento di Biologia, Università di Padova, Italy.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

1487234

Citation

Müller, E, et al. "Further Evidence of a Duplication in 17p11.2 in Families With Recurrence of HMSN Ia (Charcot-Marie-Tooth Neuropathy Type Ia)." Human Genetics, vol. 90, no. 3, 1992, pp. 231-4.
Müller E, Mostacciuolo ML, Micaglio G, et al. Further evidence of a duplication in 17p11.2 in families with recurrence of HMSN Ia (Charcot-Marie-Tooth neuropathy type Ia). Hum Genet. 1992;90(3):231-4.
Müller, E., Mostacciuolo, M. L., Micaglio, G., Angelini, C., & Danieli, G. A. (1992). Further evidence of a duplication in 17p11.2 in families with recurrence of HMSN Ia (Charcot-Marie-Tooth neuropathy type Ia). Human Genetics, 90(3), 231-4.
Müller E, et al. Further Evidence of a Duplication in 17p11.2 in Families With Recurrence of HMSN Ia (Charcot-Marie-Tooth Neuropathy Type Ia). Hum Genet. 1992;90(3):231-4. PubMed PMID: 1487234.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Further evidence of a duplication in 17p11.2 in families with recurrence of HMSN Ia (Charcot-Marie-Tooth neuropathy type Ia). AU - Müller,E, AU - Mostacciuolo,M L, AU - Micaglio,G, AU - Angelini,C, AU - Danieli,G A, PY - 1992/11/1/pubmed PY - 1992/11/1/medline PY - 1992/11/1/entrez SP - 231 EP - 4 JF - Human genetics JO - Hum. Genet. VL - 90 IS - 3 N2 - 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. SN - 0340-6717 UR - https://www.unboundmedicine.com/medline/citation/1487234/Further_evidence_of_a_duplication_in_17p11_2_in_families_with_recurrence_of_HMSN_Ia__Charcot_Marie_Tooth_neuropathy_type_Ia__ L2 - https://medlineplus.gov/charcotmarietoothdisease.html DB - PRIME DP - Unbound Medicine ER -