LETTER TO JMG

Homozygosity mapping of autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy (CMT4H) to a novel locus on chromosome 12p11.21-q13.11

A De Sandre-Giovannoli^1,*, V Delague^2,*, T Hamadouche², M Chaouch³, M Krahn², I Boccaccio², T Maisonobe⁴, E Chouery⁵, R Jabbour⁷, S Atweh⁷, D Grid⁶, A Mégarbané⁵, N Lévy¹

¹ Inserm U491 and Département de Génétique Médicale, Campus Hospitalier et Universitaire de la Timone, Marseille, France
² Inserm U491, Génétique Médicale et Développement, Faculté de Médecine de la Timone, Marseille, France
³ Service de Neurologie, Centre Hospitalier Universitaire Ben Aknoun, Algiers, Algeria
⁴ Service de Neuropathologie, Hôpital de la Salpêtrière, Paris, France
⁵ Unité de Génétique Médicale, Université Saint-Joseph, Faculté de Médecine, Beirut, Lebanon
⁶ Généthon III, Evry, France
⁷ American University of Beirut Medical Center, Beirut, Lebanon

Correspondence to:
Correspondence to:
Dr Nicolas Lévy
INSERM U491, Génétique Médicale et Développement, Faculté de Médecine de la Timone, 13385 Marseille Cedex 05, France; Nicolas.Levy@medecine.univ-mrs.fr

Abbreviations: CMT, Charcot-Marie-Tooth disease; LOD, log of odds ratio; STR, short tandem repeat

Keywords: Charcot-Marie-Tooth disease; demyelinating neuropathy; homozygosity mapping; chromosome 12

The first 150 words of the full text of this article appear below.

Hereditary motor and sensory neuropathies, commonly referred to as Charcot-Marie-Tooth disease (CMT), are among the most common inherited neurological diseases, with an overall prevalence of about 1–4/10 000.¹ Clinically, the hereditary motor and sensory neuropathies are characterised by progressive muscular and sensory loss in the distal extremities with chronic distal weakness, deformation of the feet (pes cavus), and loss of deep tendon reflexes.² Two main subgroups have been defined on the basis of electrophysiological and histopathological characteristics: the demyelinating form (CMT1) and the axonal form (CMT2). CMT1 can be distinguished from CMT2 by measuring motor nerve conduction velocities in the median nerve: patients affected by CMT1 show reduced velocities (<38 m/s), whereas those affected by CMT2 show velocities of 38 m/s, the normal value being 48 m/s. Recently, a new group of CMT has been described, referred to as intermediate CMT^3,4; in this, nerve conduction velocities overlap CMT1 and . . . [Full text of this article]

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