Mild early onset axonal Charcot-Marie-Tooth disease not linked to other axonal Charcot-Marie-Tooth loci

A. Kochański; M. Kennerson; M. Kawulak; B. Ryniewicz; K. Rowińska-Marcińska; G. Walizada; A. Nowakowski; I. Hausmanowa-Petrusewicz; G. A. Nicholson

Mild early onset axonal Charcot-Marie-Tooth disease not linked to other axonal Charcot-Marie-Tooth loci

A. Kochański^*, M. Kennerson, M. Kawulak, B. Ryniewicz, K. Rowińska-Marcińska, G. Walizada, A. Nowakowski, I. Hausmanowa-Petrusewicz, G. A. Nicholson

^*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

2 Citations (Scopus)

Abstract

Autosomal dominant axonal Charcot-Marie-Tooth disease type 2 (CMT2) is a heterogeneous group of disorders with seven chromosomal loci mapped in the uncomplicated forms of CMT2. The authors report clinical, electrophysiologic, and genetic analysis of a Polish CMT2 family. Nine known CMT2 gene loci and one MPZ gene locus have been excluded. The authors' findings suggest that this family represents a novel form of CMT2 disease.

Original language	English
Pages (from-to)	533-535
Number of pages	3
Journal	Neurology
Volume	64
Issue number	3
Publication status	Published - 8 Feb 2005
Externally published	Yes

Cite this

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abstract = "Autosomal dominant axonal Charcot-Marie-Tooth disease type 2 (CMT2) is a heterogeneous group of disorders with seven chromosomal loci mapped in the uncomplicated forms of CMT2. The authors report clinical, electrophysiologic, and genetic analysis of a Polish CMT2 family. Nine known CMT2 gene loci and one MPZ gene locus have been excluded. The authors' findings suggest that this family represents a novel form of CMT2 disease.",

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T1 - Mild early onset axonal Charcot-Marie-Tooth disease not linked to other axonal Charcot-Marie-Tooth loci

AU - Kochański, A.

AU - Kennerson, M.

AU - Kawulak, M.

AU - Ryniewicz, B.

AU - Rowińska-Marcińska, K.

AU - Walizada, G.

AU - Nowakowski, A.

AU - Hausmanowa-Petrusewicz, I.

AU - Nicholson, G. A.

PY - 2005/2/8

Y1 - 2005/2/8

N2 - Autosomal dominant axonal Charcot-Marie-Tooth disease type 2 (CMT2) is a heterogeneous group of disorders with seven chromosomal loci mapped in the uncomplicated forms of CMT2. The authors report clinical, electrophysiologic, and genetic analysis of a Polish CMT2 family. Nine known CMT2 gene loci and one MPZ gene locus have been excluded. The authors' findings suggest that this family represents a novel form of CMT2 disease.

AB - Autosomal dominant axonal Charcot-Marie-Tooth disease type 2 (CMT2) is a heterogeneous group of disorders with seven chromosomal loci mapped in the uncomplicated forms of CMT2. The authors report clinical, electrophysiologic, and genetic analysis of a Polish CMT2 family. Nine known CMT2 gene loci and one MPZ gene locus have been excluded. The authors' findings suggest that this family represents a novel form of CMT2 disease.

UR - http://www.scopus.com/inward/record.url?scp=13244250971&partnerID=8YFLogxK

M3 - Article

C2 - 15699389

AN - SCOPUS:13244250971

SN - 0028-3878

VL - 64

SP - 533

EP - 535

JO - Neurology

JF - Neurology

IS - 3

ER -

Mild early onset axonal Charcot-Marie-Tooth disease not linked to other axonal Charcot-Marie-Tooth loci

Abstract

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