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.
Links
MeSH
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 -