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Confirmation of a hereditary motor and sensory neuropathy IIC locus at chromosome 12q23-q24.
Ann Neurol. 2005 Feb; 57(2):293-7.AN

Abstract

Hereditary motor and sensory neuropathy type IIC (HMSN IIC) is an autosomal dominant axonal neuropathy. The cardinal features include distal muscle wasting and weakness, vocal cord paralysis, and mild sensory impairment. Recently, HMSN IIC locus was mapped to chromosome 12q23-24. Two families affected by HMSN IIC were identified and evaluated for linkage to this region. Segregation analysis in both families was consistent with linkage to chromosome 12q23-24. Combined analysis generated a multipoint LOD score of 2.1 at marker D12S1583 and refined the HMSN IIC gene interval to The clinical and molecular findings are discussed.

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Authors+Show Affiliations

McEntagart ME
Department of Medical Genetics, St. George's Hospital Medical School, London, United Kingdom.
Reid SL
No affiliation info available
Irrthum A
No affiliation info available
Irtthum A
No affiliation info available
Douglas JB
No affiliation info available
Eyre KE
No affiliation info available
Donaghy MJ
No affiliation info available
Anderson NE
No affiliation info available
Rahman N
No affiliation info available

MeSH

AdolescentAdultAgedCharcot-Marie-Tooth DiseaseChildChromosomes, Human, Pair 12DNA Mutational AnalysisFemaleGenetic LinkageHumansInfant, NewbornLod ScoreMaleMicrosatellite RepeatsMiddle AgedNeural ConductionPedigree

Pub Type(s)

Journal Article

Language

eng

PubMed ID

15668982

Citation

McEntagart, Meriel E., et al. "Confirmation of a Hereditary Motor and Sensory Neuropathy IIC Locus at Chromosome 12q23-q24." Annals of Neurology, vol. 57, no. 2, 2005, pp. 293-7.
McEntagart ME, Reid SL, Irrthum A, et al. Confirmation of a hereditary motor and sensory neuropathy IIC locus at chromosome 12q23-q24. Ann Neurol. 2005;57(2):293-7.
McEntagart, M. E., Reid, S. L., Irrthum, A., Irtthum, A., Douglas, J. B., Eyre, K. E., Donaghy, M. J., Anderson, N. E., & Rahman, N. (2005). Confirmation of a hereditary motor and sensory neuropathy IIC locus at chromosome 12q23-q24. Annals of Neurology, 57(2), 293-7.
McEntagart ME, et al. Confirmation of a Hereditary Motor and Sensory Neuropathy IIC Locus at Chromosome 12q23-q24. Ann Neurol. 2005;57(2):293-7. PubMed PMID: 15668982.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Confirmation of a hereditary motor and sensory neuropathy IIC locus at chromosome 12q23-q24. AU - McEntagart,Meriel E, AU - Reid,Sarah L, AU - Irrthum,Alexandre, AU - Irtthum,Alexandre, AU - Douglas,Jenny B, AU - Eyre,Keith E D, AU - Donaghy,Michael J, AU - Anderson,Neil E, AU - Rahman,Nazneen, PY - 2005/1/26/pubmed PY - 2005/3/24/medline PY - 2005/1/26/entrez SP - 293 EP - 7 JF - Annals of neurology JO - Ann Neurol VL - 57 IS - 2 N2 - Hereditary motor and sensory neuropathy type IIC (HMSN IIC) is an autosomal dominant axonal neuropathy. The cardinal features include distal muscle wasting and weakness, vocal cord paralysis, and mild sensory impairment. Recently, HMSN IIC locus was mapped to chromosome 12q23-24. Two families affected by HMSN IIC were identified and evaluated for linkage to this region. Segregation analysis in both families was consistent with linkage to chromosome 12q23-24. Combined analysis generated a multipoint LOD score of 2.1 at marker D12S1583 and refined the HMSN IIC gene interval to The clinical and molecular findings are discussed. SN - 0364-5134 UR - https://www.unboundmedicine.com/medline/citation/15668982/Confirmation_of_a_hereditary_motor_and_sensory_neuropathy_IIC_locus_at_chromosome_12q23_q24_ L2 - https://doi.org/10.1002/ana.20375 DB - PRIME DP - Unbound Medicine ER -